C1862322[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17771	NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)	SLC4A1 (A858D)	Single nucleotide variant (missense variant)	BLOOD GROUP--WRIGHT ANTIGEN +11 more	GPathogenic/Likely pathogenic
Select item 17767	NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp)	SLC4A1 (G701D)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +12 more	GPathogenic
Select item 17764	NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)	SLC4A1 (R589C)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 4 +11 more	GPathogenic/Likely pathogenic
Select item 17773	NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)	SLC4A1 (V488M)	Single nucleotide variant (missense variant)	Autosomal dominant distal renal tubular acidosis +11 more	GPathogenic/Likely pathogenic
Select item 17753	NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del)	SLC4A1	Deletion (inframe_deletion)	Autosomal dominant distal renal tubular acidosis +11 more	GPathogenic/Likely pathogenic
Select item 17754	NM_000342.3(SLC4A1):c.-62G>A	SLC4A1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant distal renal tubular acidosis +12 more	GUncertain significance

ClinVar