List of variants in gene ATP8B1 reported as pathogenic by OMIM

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)	rs34719006	0.00245
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)	rs121909100	0.00009
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val)	rs111033609	0.00006
NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg)	rs121909098	0.00003
NM_001374385.1(ATP8B1):c.1804C>T (p.Arg602Ter)	rs121909105	0.00001
NM_001374385.1(ATP8B1):c.2097+2T>C	rs387906381	0.00001
NM_001374385.1(ATP8B1):c.2932-3C>A	rs1057523495	0.00001
NM_001374385.1(ATP8B1):c.863T>C (p.Leu288Ser)	rs121909099	0.00001
NM_001374385.1(ATP8B1):c.1367C>T (p.Thr456Met)	rs121909104
NM_001374385.1(ATP8B1):c.1660G>A (p.Asp554Asn)	rs121909101
NM_001374385.1(ATP8B1):c.2384_2392del (p.Gly795_Arg797del)	rs2122653939
NM_001374385.1(ATP8B1):c.2599C>T (p.Arg867Cys)	rs121909103

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