List of variants in gene ATP8B1 reported as uncertain significance for benign recurrent intrahepatic cholestasis

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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: 8

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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.607A>G (p.Lys203Glu)	rs56355310	0.00095
NM_001374385.1(ATP8B1):c.1325A>G (p.Asn442Ser)	rs755385749	0.00004
NM_001374385.1(ATP8B1):c.2546G>A (p.Arg849Gln)	rs144656719	0.00002
NM_001374385.1(ATP8B1):c.1981A>G (p.Ile661Val)	rs1555689790	0.00001
NM_001374385.1(ATP8B1):c.2164G>C (p.Ala722Pro)
NM_001374385.1(ATP8B1):c.2663C>T (p.Thr888Met)	rs540027832
NM_001374385.1(ATP8B1):c.3494T>A (p.Phe1165Tyr)	rs946672182

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