List of variants in gene ATP8B1 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val)	rs111033609	0.00002
NM_001374385.1(ATP8B1):c.1660G>A (p.Asp554Asn)	rs121909101	0.00001
NM_001374385.1(ATP8B1):c.2854C>T (p.Arg952Ter)	rs765889649	0.00001

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