ClinVar Miner

List of variants in gene ABCB11 reported as likely benign for Progressive familial intrahepatic cholestasis 2

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Total variants: 15
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HGVS dbSNP
NM_003742.4(ABCB11):c.*237T>C rs548624200
NM_003742.4(ABCB11):c.*440G>A rs79130028
NM_003742.4(ABCB11):c.1124A>G (p.Asn375Ser) rs572222881
NM_003742.4(ABCB11):c.156G>A (p.Arg52=) rs140587295
NM_003742.4(ABCB11):c.1791G>T (p.Val597=) rs11568371
NM_003742.4(ABCB11):c.1932G>A (p.Leu644=) rs750100537
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val) rs200912109
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro) rs150572999
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=) rs200087122
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664
NM_003742.4(ABCB11):c.3411+10G>A rs188996270
NM_003742.4(ABCB11):c.3766-10C>T rs369104228
NM_003742.4(ABCB11):c.408C>T (p.Ser136=) rs183214630
NM_003742.4(ABCB11):c.810G>A (p.Glu270=) rs369671177
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys) rs2287617

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