ClinVar Miner

List of variants in gene ATP8B1 studied for cholestasis, intrahepatic, of pregnancy, 1

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001374385.1(ATP8B1):c.3454G>A (p.Ala1152Thr) rs222581 0.99879
NM_001374385.1(ATP8B1):c.696T>C (p.Asp232=) rs319438 0.99384
NM_001374385.1(ATP8B1):c.1430-89C>T rs319459 0.99232
NM_001374385.1(ATP8B1):c.699-52C>T rs319442 0.99086
NM_001374385.1(ATP8B1):c.811A>C (p.Arg271=) rs319443 0.99084
NM_001374385.1(ATP8B1):c.698+20C>T rs319439 0.42536
NM_001374385.1(ATP8B1):c.1932+44C>T rs317838 0.39951
NM_001374385.1(ATP8B1):c.3532-15C>T rs12958967 0.19806
NM_001374385.1(ATP8B1):c.3531+8G>T rs34027711 0.12129
NM_001374385.1(ATP8B1):c.134A>C (p.Asn45Thr) rs146599962 0.00657
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_001374385.1(ATP8B1):c.3016-19A>G rs139202277 0.00210
NM_001374385.1(ATP8B1):c.2931+14G>A rs34451179 0.00101
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_001374385.1(ATP8B1):c.26C>T (p.Thr9Met) rs150268416 0.00007
NM_001374385.1(ATP8B1):c.212G>A (p.Arg71His) rs148715351 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.1234C>T (p.Arg412Cys) rs760934663
NM_001374385.1(ATP8B1):c.136C>T (p.Arg46Ter)
NM_001374385.1(ATP8B1):c.1430-126_1430-124del rs10594129
NM_001374385.1(ATP8B1):c.2251G>T (p.Glu751Ter) rs1057524081
NM_001374385.1(ATP8B1):c.2599C>T (p.Arg867Cys) rs121909103
NM_001374385.1(ATP8B1):c.68C>T (p.Pro23Leu)
NM_001374385.1(ATP8B1):c.698+1G>T
NM_001374385.1(ATP8B1):c.886C>A (p.Arg296Ser)

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