ClinVar Miner

List of variants in gene ABCB4 studied for Progressive intrahepatic cholestasis

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Total variants: 25
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HGVS dbSNP
NM_018849.3(ABCB4):c.-18G>T rs886062461
NM_018849.3(ABCB4):c.-1G>A rs45449704
NM_018849.3(ABCB4):c.-6-4T>C rs8187785
NM_018849.3(ABCB4):c.147C>T (p.Ser49=) rs8187789
NM_018849.3(ABCB4):c.175C>T (p.Leu59=) rs2302387
NM_018849.3(ABCB4):c.1784G>A (p.Arg595Gln) rs144398632
NM_018849.3(ABCB4):c.1858A>G (p.Lys620Glu) rs886062460
NM_018849.3(ABCB4):c.1893+6T>C rs8187798
NM_018849.3(ABCB4):c.1938T>C (p.Asp646=) rs553616378
NM_018849.3(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028
NM_018849.3(ABCB4):c.1970G>T (p.Gly657Val) rs367709575
NM_018849.3(ABCB4):c.1982G>A (p.Arg661His) rs532332220
NM_018849.3(ABCB4):c.2047G>A (p.Val683Met) rs776616540
NM_018849.3(ABCB4):c.2055C>T (p.Thr685=) rs747255117
NM_018849.3(ABCB4):c.2137G>A (p.Val713Met) rs373122168
NM_018849.3(ABCB4):c.2535T>C (p.Gly845=) rs545534537
NM_018849.3(ABCB4):c.3037A>C (p.Arg1013=) rs2230029
NM_018849.3(ABCB4):c.3231G>A (p.Thr1077=) rs376825608
NM_018849.3(ABCB4):c.3306C>T (p.Leu1102=) rs561612231
NM_018849.3(ABCB4):c.3393C>T (p.Cys1131=) rs886062459
NM_018849.3(ABCB4):c.459T>C (p.Phe153=) rs2230027
NM_018849.3(ABCB4):c.504C>T (p.Asn168=) rs1202283
NM_018849.3(ABCB4):c.696C>T (p.Ala232=) rs8187791
NM_018849.3(ABCB4):c.711A>T (p.Ile237=) rs2109505
NM_018849.3(ABCB4):c.927T>C (p.Tyr309=) rs199504845

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