ClinVar Miner

List of variants in gene ABCB4 reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (961):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP
NM_000443.4(ABCB4):c.-18G>T rs886062461
NM_000443.4(ABCB4):c.1005+3A>G
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met) rs142794414
NM_000443.4(ABCB4):c.1055C>T (p.Pro352Leu)
NM_000443.4(ABCB4):c.109G>T (p.Val37Leu)
NM_000443.4(ABCB4):c.1277C>T (p.Ala426Val)
NM_000443.4(ABCB4):c.1281G>C (p.Leu427=)
NM_000443.4(ABCB4):c.1469T>C (p.Ile490Thr) rs1562976223
NM_000443.4(ABCB4):c.147C>A (p.Ser49=)
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636
NM_000443.4(ABCB4):c.1784G>A (p.Arg595Gln) rs144398632
NM_000443.4(ABCB4):c.1858A>G (p.Lys620Glu) rs886062460
NM_000443.4(ABCB4):c.1970G>T (p.Gly657Val) rs367709575
NM_000443.4(ABCB4):c.1982G>A (p.Arg661His) rs532332220
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met) rs776616540
NM_000443.4(ABCB4):c.2055C>T (p.Thr685=) rs747255117
NM_000443.4(ABCB4):c.2137G>A (p.Val713Met) rs373122168
NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile) rs138773456
NM_000443.4(ABCB4):c.217C>G (p.Leu73Val) rs8187788
NM_000443.4(ABCB4):c.2242C>G (p.Gln748Glu)
NM_000443.4(ABCB4):c.2340C>A (p.Gly780=)
NM_000443.4(ABCB4):c.2478+7A>T
NM_000443.4(ABCB4):c.2535T>C (p.Gly845=) rs545534537
NM_000443.4(ABCB4):c.2590G>T (p.Val864Phe)
NM_000443.4(ABCB4):c.2591T>C (p.Val864Ala)
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) rs2230029
NM_000443.4(ABCB4):c.3144C>T (p.Asn1048=)
NM_000443.4(ABCB4):c.3231G>A (p.Thr1077=) rs376825608
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=) rs561612231
NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly) rs139042803
NM_000443.4(ABCB4):c.3308T>G (p.Leu1103Arg)
NM_000443.4(ABCB4):c.3372C>T (p.Cys1124=) rs886062459
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=) rs371394487
NM_000443.4(ABCB4):c.3409C>T (p.Arg1137Trp)
NM_000443.4(ABCB4):c.344+4A>G
NM_000443.4(ABCB4):c.3476C>T (p.Thr1159Met) rs145056464
NM_000443.4(ABCB4):c.3504G>A (p.Val1168=)
NM_000443.4(ABCB4):c.3543G>A (p.Gln1181=) rs140592811
NM_000443.4(ABCB4):c.3553A>G (p.Ile1185Val)
NM_000443.4(ABCB4):c.3588C>T (p.Leu1196=)
NM_000443.4(ABCB4):c.3695G>A (p.Arg1232His)
NM_000443.4(ABCB4):c.431G>A (p.Arg144Gln) rs863225299
NM_000443.4(ABCB4):c.511A>G (p.Thr171Ala)
NM_000443.4(ABCB4):c.697G>A (p.Val233Ile)
NM_000443.4(ABCB4):c.805T>C (p.Phe269Leu)
NM_000443.4(ABCB4):c.927T>C (p.Tyr309=) rs199504845
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778
NM_018849.3(ABCB4):c.140G>A (p.Arg47Gln) rs372685632

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