ClinVar Miner

List of variants reported as likely pathogenic for cholestasis, intrahepatic, of pregnancy, 3

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.2191C>T (p.Pro731Ser) rs201240844 0.00021
NM_000443.4(ABCB4):c.2784-12T>C rs201498350 0.00019
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00013
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_003742.4(ABCB11):c.1774G>C (p.Glu592Gln) rs11568370 0.00009
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_003742.4(ABCB11):c.2012-8T>G rs769910565 0.00006
NM_000443.4(ABCB4):c.1778C>T (p.Thr593Met) rs571555115 0.00003
NM_000443.4(ABCB4):c.1801G>T (p.Ala601Ser) rs1037196284 0.00003
NM_000443.4(ABCB4):c.2211+1G>A rs794727183 0.00002
NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln) rs760153272 0.00001
NM_000443.4(ABCB4):c.3230C>T (p.Thr1077Met) rs754565782 0.00001
NM_000443.4(ABCB4):c.3486+1G>A rs764513998 0.00001
NM_000443.4(ABCB4):c.449G>A (p.Arg150Lys) rs757693457 0.00001
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter) rs377160065 0.00001
NM_003742.4(ABCB11):c.1769A>G (p.Asp590Gly) rs886044710 0.00001
NM_000443.4(ABCB4):c.1119+1G>T rs1584750660
NM_000443.4(ABCB4):c.1196T>C (p.Val399Ala)
NM_000443.4(ABCB4):c.1357-2A>C rs1584742063
NM_000443.4(ABCB4):c.1378A>T (p.Ile460Phe) rs1562976422
NM_000443.4(ABCB4):c.2380G>C (p.Ala794Pro)
NM_000443.4(ABCB4):c.2556C>A (p.Tyr852Ter) rs533310204
NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys) rs1808782267
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
NM_000443.4(ABCB4):c.2882_2883del (p.Tyr961fs) rs1584684209
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000443.4(ABCB4):c.2932T>C (p.Ser978Pro) rs1051861187
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter) rs759202962
NM_000443.4(ABCB4):c.3152T>C (p.Val1051Ala)
NM_000443.4(ABCB4):c.3170T>C (p.Leu1057Pro)
NM_000443.4(ABCB4):c.3224A>T (p.Lys1075Met) rs1187517509
NM_000443.4(ABCB4):c.334G>T (p.Glu112Ter)
NM_000443.4(ABCB4):c.3434dup (p.Ser1146fs) rs1584671714
NM_000443.4(ABCB4):c.3506G>A (p.Gly1169Glu)
NM_000443.4(ABCB4):c.3535C>T (p.Gln1179Ter) rs1584665400
NM_000443.4(ABCB4):c.3593T>A (p.Leu1198Ter)
NM_000443.4(ABCB4):c.3838T>A (p.Ter1280Arg)
NM_000443.4(ABCB4):c.652del (p.Leu218_Val219insTer) rs1584763429
NM_000443.4(ABCB4):c.766G>A (p.Ala256Thr)
NM_000443.4(ABCB4):c.793A>T (p.Thr265Ser)
NM_000443.4(ABCB4):c.808G>A (p.Gly270Arg) rs551234479
NM_000443.4(ABCB4):c.834-1G>A rs752563752
NM_000443.4(ABCB4):c.879del (p.Ala294fs) rs1326932143
NM_000443.4(ABCB4):c.88_91del (p.Lys30fs)
NM_000443.4(ABCB4):c.893del (p.Asn298fs) rs1584754766
NM_000443.4(ABCB4):c.905G>A (p.Gly302Asp) rs1584754706
NM_003742.4(ABCB11):c.1623C>G (p.Ile541Met) rs764296800
NM_003742.4(ABCB11):c.2075+2T>C rs1574445178
NM_003742.4(ABCB11):c.3677G>T (p.Arg1226Leu) rs778992761

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