"OMIM"[submitter] AND "ABCC1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6568	NC_000016.10:g.(?_15703134)_(16223472_?)del	ABCC1, ABCC6 +9 more	Deletion	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
Select item 929256	NM_004996.4(ABCC1):c.1769A>G (p.Asn590Ser)	ABCC1 (N590S)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 77	GPathogenic