ClinVar Miner

List of variants in gene ATP8B1 studied for benign recurrent intrahepatic cholestasis

Included ClinVar conditions (6):
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Total variants: 58
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HGVS dbSNP gnomAD frequency
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.1982T>C (p.Ile661Thr) rs121909100 0.00009
NM_001374385.1(ATP8B1):c.2286-2A>G rs377132123 0.00005
NM_001374385.1(ATP8B1):c.1325A>G (p.Asn442Ser) rs755385749 0.00004
NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter) rs374340059 0.00004
NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg) rs121909098 0.00003
NM_001374385.1(ATP8B1):c.2546G>A (p.Arg849Gln) rs144656719 0.00002
NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln) rs1202682161 0.00001
NM_001374385.1(ATP8B1):c.1804C>T (p.Arg602Ter) rs121909105 0.00001
NM_001374385.1(ATP8B1):c.1981A>G (p.Ile661Val) rs1555689790 0.00001
NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter) rs515726137 0.00001
NM_001374385.1(ATP8B1):c.2097+2T>C rs387906381 0.00001
NM_001374385.1(ATP8B1):c.279G>A (p.Ala93=) rs761575295 0.00001
NM_001374385.1(ATP8B1):c.2844del (p.Met947_Cys948insTer) rs752757689 0.00001
NM_001374385.1(ATP8B1):c.2932-3C>A rs1057523495 0.00001
NM_001374385.1(ATP8B1):c.1081del (p.Tyr361fs)
NM_001374385.1(ATP8B1):c.1210_1213del (p.Leu404fs) rs1912544280
NM_001374385.1(ATP8B1):c.1214_1215del (p.Tyr405fs)
NM_001374385.1(ATP8B1):c.1246_1247del (p.His417fs)
NM_001374385.1(ATP8B1):c.1429+1G>T
NM_001374385.1(ATP8B1):c.1553C>G (p.Ser518Ter)
NM_001374385.1(ATP8B1):c.1581CTT[2] (p.Phe529del) rs756395915
NM_001374385.1(ATP8B1):c.1781T>A (p.Leu594Ter)
NM_001374385.1(ATP8B1):c.1798C>T (p.Arg600Trp)
NM_001374385.1(ATP8B1):c.1884del (p.Leu629fs)
NM_001374385.1(ATP8B1):c.1891C>T (p.Arg631Ter) rs775370485
NM_001374385.1(ATP8B1):c.1932+1G>A rs1568188537
NM_001374385.1(ATP8B1):c.1943del (p.Asn648fs)
NM_001374385.1(ATP8B1):c.2081T>A (p.Ile694Asn)
NM_001374385.1(ATP8B1):c.2164G>C (p.Ala722Pro)
NM_001374385.1(ATP8B1):c.2384_2392del (p.Gly795_Arg797del) rs2122653939
NM_001374385.1(ATP8B1):c.2418+5G>A
NM_001374385.1(ATP8B1):c.2558T>C (p.Phe853Ser)
NM_001374385.1(ATP8B1):c.2663C>T (p.Thr888Met) rs540027832
NM_001374385.1(ATP8B1):c.2800A>G (p.Arg934Gly)
NM_001374385.1(ATP8B1):c.2807_2810dup (p.Val938fs)
NM_001374385.1(ATP8B1):c.2876_2877del (p.Phe959fs)
NM_001374385.1(ATP8B1):c.2940C>G (p.Tyr980Ter)
NM_001374385.1(ATP8B1):c.2941G>A (p.Glu981Lys)
NM_001374385.1(ATP8B1):c.2989G>A (p.Val997Met)
NM_001374385.1(ATP8B1):c.3040C>T (p.Arg1014Ter) rs781213892
NM_001374385.1(ATP8B1):c.3131C>T (p.Ser1044Leu)
NM_001374385.1(ATP8B1):c.3400+2T>C
NM_001374385.1(ATP8B1):c.3490C>T (p.Arg1164Ter)
NM_001374385.1(ATP8B1):c.3494T>A (p.Phe1165Tyr) rs946672182
NM_001374385.1(ATP8B1):c.3531+1G>A
NM_001374385.1(ATP8B1):c.423G>A (p.Trp141Ter)
NM_001374385.1(ATP8B1):c.589_592delinsCTCCA (p.Gly197fs) rs1912903065
NM_001374385.1(ATP8B1):c.699-2A>G
NM_001374385.1(ATP8B1):c.736dup (p.Thr246fs)
NM_001374385.1(ATP8B1):c.773del (p.Thr258fs)
NM_001374385.1(ATP8B1):c.811A>T (p.Arg271Ter)
NM_001374385.1(ATP8B1):c.922G>A (p.Gly308Ser)
NM_001374385.1(ATP8B1):c.929dup (p.Ile311fs)

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