ClinVar Miner

List of variants in gene ABCB4 reported as likely benign for Familial Intrahepatic Cholestasis

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000443.3(ABCB4):c.-1G>A rs45449704
NM_000443.3(ABCB4):c.-6-4T>C rs8187785
NM_000443.3(ABCB4):c.147C>T (p.Ser49=) rs8187789
NM_000443.3(ABCB4):c.459T>C (p.Phe153=) rs2230027
NM_000443.3(ABCB4):c.711A>T (p.Ile237=) rs2109505

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