ClinVar for Gene (Select 196) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341828	NC_000007.14:g.17296625_17296629del	AHR	Deletion	not provided	GBenign
Select item 3340538	NM_001621.5(AHR):c.899_908+15del	AHR	Deletion (splice donor variant)	FOVEAL HYPOPLASIA 3	GPathogenic
Select item 3102138	NM_001621.5(AHR):c.553G>C (p.Glu185Gln)	AHR (E185Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102093	NM_001621.5(AHR):c.19A>G (p.Asn7Asp)	AHR, LOC129998012 (N7D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102073	NM_001621.5(AHR):c.1648T>G (p.Phe550Val)	AHR (F550V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 3022837	NM_001621.5(AHR):c.2284C>G (p.Gln762Glu)	AHR (Q762E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022836	NM_001621.5(AHR):c.65+14_65+15delinsTT	AHR	Indel (intron variant)	not provided	GUncertain significance
Select item 3013843	NM_001621.5(AHR):c.355T>C (p.Leu119=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004295	NM_001621.5(AHR):c.698G>A (p.Gly233Asp)	AHR (G233D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995987	NM_001621.5(AHR):c.451-18T>G	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976701	NM_001621.5(AHR):c.213G>A (p.Arg71=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972407	NM_001621.5(AHR):c.1018+14C>G	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969965	NM_001621.5(AHR):c.624T>A (p.Ile208=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969771	NM_001621.5(AHR):c.1023T>C (p.Ile341=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915768	NM_001621.5(AHR):c.675G>A (p.Arg225=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873996	NM_001621.5(AHR):c.801G>A (p.Ala267=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864731	NM_001621.5(AHR):c.360+16T>C	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848283	NM_001621.5(AHR):c.258A>T (p.Ala86=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831591	NM_001621.5(AHR):c.732G>A (p.Lys244=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818115	NM_001621.5(AHR):c.951G>T (p.Thr317=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815462	NM_001621.5(AHR):c.2499G>C (p.Pro833=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795063	NM_001621.5(AHR):c.66-9_66-6del	AHR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2792307	NM_001621.5(AHR):c.705+19T>C	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781622	NM_001621.5(AHR):c.2419T>C (p.Leu807=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777367	NM_001621.5(AHR):c.451-19T>C	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2713585	NM_001621.5(AHR):c.762A>G (p.Lys254=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707497	NM_001621.5(AHR):c.1014C>T (p.Ile338=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624249	NM_001621.5(AHR):c.428A>G (p.Gln143Arg)	AHR (Q143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618530	NM_001621.5(AHR):c.257C>T (p.Ala86Val)	AHR (A86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545435	NM_001621.5(AHR):c.958T>A (p.Ser320Thr)	AHR (S320T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526605	NM_001621.5(AHR):c.1714T>C (p.Phe572Leu)	AHR (F572L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487253	NM_001621.5(AHR):c.104C>T (p.Pro35Leu)	AHR (P35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475746	NM_001621.5(AHR):c.2293T>G (p.Tyr765Asp)	AHR (Y765D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424210	NC_000007.13:g.(?_16131320)_(17382688_?)del	AGR2, AGR3 +7 more	Deletion	not provided	GUncertain significance
Select item 2424209	NC_000007.13:g.(?_17349540)_(17382688_?)dup	AHR	Duplication	not provided	GUncertain significance
Select item 2421837	NM_001621.5(AHR):c.2521G>A (p.Asp841Asn)	AHR (D841N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418182	NM_001621.5(AHR):c.993T>G (p.Leu331=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2308725	NM_001621.5(AHR):c.1463A>T (p.Glu488Val)	AHR (E488V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279238	NM_001621.5(AHR):c.329T>G (p.Leu110Arg)	AHR (L110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271961	NM_001621.5(AHR):c.525C>G (p.His175Gln)	AHR (H175Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247653	NM_001621.5(AHR):c.2090C>T (p.Thr697Ile)	AHR (T697I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208572	NM_001621.5(AHR):c.914G>A (p.Arg305Lys)	AHR (R305K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207903	NM_001621.5(AHR):c.2398A>G (p.Asn800Asp)	AHR (N800D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2193434	NM_001621.5(AHR):c.1460A>G (p.Asn487Ser)	AHR (N487S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189319	NM_001621.5(AHR):c.2240A>G (p.Asn747Ser)	AHR (N747S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182105	NM_001621.5(AHR):c.74C>A (p.Pro25Gln)	AHR (P25Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168505	NM_001621.5(AHR):c.258A>G (p.Ala86=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2157201	NM_001621.5(AHR):c.1837G>A (p.Val613Ile)	AHR (V613I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2147677	NM_001621.5(AHR):c.1255C>A (p.Pro419Thr)	AHR (P419T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2147611	NM_001621.5(AHR):c.2312T>C (p.Met771Thr)	AHR (M771T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2143503	NM_001621.5(AHR):c.1541T>C (p.Ile514Thr)	AHR (I514T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135906	NM_001621.5(AHR):c.1247C>G (p.Ala416Gly)	AHR (A416G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134534	NM_001621.5(AHR):c.1800A>G (p.Gln600=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133739	NM_001621.5(AHR):c.1872A>G (p.Gln624=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133202	NM_001621.5(AHR):c.2297C>A (p.Ala766Asp)	AHR (A766D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128518	NM_001621.5(AHR):c.253+5G>A	AHR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2126978	NM_001621.5(AHR):c.2351G>A (p.Gly784Asp)	AHR (G784D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124089	NM_001621.5(AHR):c.8G>C (p.Ser3Thr)	AHR (S3T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123935	NM_001621.5(AHR):c.1841A>C (p.Gln614Pro)	AHR (Q614P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122665	NM_001621.5(AHR):c.1653A>T (p.Glu551Asp)	AHR (E551D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120324	NM_001621.5(AHR):c.1382T>C (p.Met461Thr)	AHR (M461T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117018	NM_001621.5(AHR):c.1160+19T>C	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116549	NM_001621.5(AHR):c.1419A>G (p.Ser473=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2115313	NM_001621.5(AHR):c.908+17C>T	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2113234	NM_001621.5(AHR):c.657C>T (p.Cys219=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2112674	NM_001621.5(AHR):c.1A>G (p.Met1Val)	AHR (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2112013	NM_001621.5(AHR):c.1603A>G (p.Lys535Glu)	AHR (K535E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2111362	NM_001621.5(AHR):c.114G>A (p.Arg38=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2109558	NM_001621.5(AHR):c.1409A>C (p.Tyr470Ser)	AHR (Y470S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109054	NM_001621.5(AHR):c.929A>G (p.Tyr310Cys)	AHR (Y310C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108465	NM_001621.5(AHR):c.253+8A>G	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2107280	NM_001621.5(AHR):c.1255C>T (p.Pro419Ser)	AHR (P419S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106854	NM_001621.5(AHR):c.112C>A (p.Arg38=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097726	NM_001621.5(AHR):c.2004C>A (p.Asp668Glu)	AHR (D668E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097616	NM_001621.5(AHR):c.1965C>T (p.Asn655=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097471	NM_001621.5(AHR):c.1047A>C (p.Ile349=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094891	NM_001621.5(AHR):c.909-12T>G	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2093461	NM_001621.5(AHR):c.1742_1743delinsAT (p.Ile581Asn)	AHR (I581N)	Indel (missense variant)	not provided	GUncertain significance
Select item 2089631	NM_001621.5(AHR):c.774A>G (p.Ile258Met)	AHR (I258M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088815	NM_001621.5(AHR):c.65+17C>T	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2086766	NM_001621.5(AHR):c.1575A>C (p.Gly525=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080790	NM_001621.5(AHR):c.1066A>G (p.Lys356Glu)	AHR (K356E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071502	NM_001621.5(AHR):c.1251C>T (p.Thr417=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070119	NM_001621.5(AHR):c.1565C>A (p.Ser522Ter)	AHR (S522*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2062634	NM_001621.5(AHR):c.1421G>T (p.Ser474Ile)	AHR (S474I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048182	NM_001621.5(AHR):c.324A>T (p.Glu108Asp)	AHR (E108D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046520	NM_001621.5(AHR):c.1991G>A (p.Cys664Tyr)	AHR (C664Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040200	NM_001621.5(AHR):c.2474C>G (p.Thr825Arg)	AHR (T825R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2037370	NM_001621.5(AHR):c.253+17T>C	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2036021	NM_001621.5(AHR):c.1273del (p.Asp425fs)	AHR (D425fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2035989	NM_001621.5(AHR):c.483T>C (p.Leu161=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2034232	NM_001621.5(AHR):c.2151G>C (p.Leu717=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2032483	NM_001621.5(AHR):c.66-13G>A	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023859	NM_001621.5(AHR):c.253+18A>G	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015788	NM_001621.5(AHR):c.124C>A (p.Arg42=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2013092	NM_001621.5(AHR):c.1914G>A (p.Leu638=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2010083	NM_001621.5(AHR):c.1755C>G (p.Val585=)	AHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007768	NM_001621.5(AHR):c.2403+15A>G	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1999472	NM_001621.5(AHR):c.1018+11G>T	AHR	Single nucleotide variant (intron variant)	not provided	GLikely benign

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