C0022350[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333210	NM_000392.5(ABCC2):c.351_355dup (p.Tyr119fs)	ABCC2 (Y119fs)	Duplication (frameshift variant)	Dubin-Johnson syndrome	GPathogenic
Select item 1526158	NM_000392.5(ABCC2):c.584_590del (p.Pro194_Ser195insTer)	ABCC2	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 497221	NM_000392.5(ABCC2):c.1177C>T (p.Arg393Trp)	ABCC2 (R393W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 8412	NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp)	ABCC2 (R768W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2444382	NM_000392.5(ABCC2):c.2312T>C (p.Leu771Pro)	ABCC2 (L771P)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 598367	NM_000392.5(ABCC2):c.2443C>T (p.Arg815Ter)	ABCC2 (R815*)	Single nucleotide variant (nonsense)	Dubin-Johnson syndrome +1 more	GPathogenic
Select item 290862	NM_000392.5(ABCC2):c.3399_3400del (p.Tyr1134fs)	ABCC2, LOC126861013 (Y1134fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1526242	NM_000392.5(ABCC2):c.3636dup (p.Leu1213fs)	ABCC2 (L1213fs)	Duplication (frameshift variant)	Dubin-Johnson syndrome +1 more	GPathogenic

ClinVar