ClinVar Miner

List of variants in gene ABCB4 studied for cholestasis, intrahepatic, of pregnancy, 3

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.1357-40A>G rs31675 0.92206
NM_000443.4(ABCB4):c.2211+16C>T rs31668 0.92183
NM_000443.4(ABCB4):c.3487-16T>C rs31653 0.91450
NM_000443.4(ABCB4):c.2211+72T>C rs31667 0.75382
NM_000443.4(ABCB4):c.504C>T (p.Asn168=) rs1202283 0.41614
NM_000443.4(ABCB4):c.175C>T (p.Leu59=) rs2302387 0.23630
NM_000443.4(ABCB4):c.711A>T (p.Ile237=) rs2109505 0.22300
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028 0.15378
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801 0.02405
NM_000443.4(ABCB4):c.147C>T (p.Ser49=) rs8187789 0.01759
NM_000443.4(ABCB4):c.459T>C (p.Phe153=) rs2230027 0.01532
NM_000443.4(ABCB4):c.2325G>C (p.Thr775=) rs8187802 0.01001
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00914
NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp) rs8187797 0.00888
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00598
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=) rs45624933 0.00490
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_000443.4(ABCB4):c.2952A>G (p.Ala984=) rs45574932 0.00325
NM_000443.4(ABCB4):c.1893+6T>C rs8187798 0.00182
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) rs2230029 0.00143
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met) rs142794414 0.00123
NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile) rs138773456 0.00074
NM_000443.4(ABCB4):c.217C>G (p.Leu73Val) rs8187788 0.00074
NM_000443.4(ABCB4):c.696C>T (p.Ala232=) rs8187791 0.00073
NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly) rs139042803 0.00044
NM_000443.4(ABCB4):c.2324C>T (p.Thr775Met) rs148052192 0.00039
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn) rs45476795 0.00032
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=) rs371394487 0.00027
NM_000443.4(ABCB4):c.3543G>A (p.Gln1181=) rs140592811 0.00025
NM_000443.4(ABCB4):c.2137G>A (p.Val713Met) rs373122168 0.00019
NM_000443.4(ABCB4):c.2784-12T>C rs201498350 0.00019
NM_000443.4(ABCB4):c.1055C>T (p.Pro352Leu) rs199662246 0.00018
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_000443.4(ABCB4):c.1784G>A (p.Arg595Gln) rs144398632 0.00015
NM_000443.4(ABCB4):c.927T>C (p.Tyr309=) rs199504845 0.00015
NM_000443.4(ABCB4):c.3553A>G (p.Ile1185Val) rs8187811 0.00014
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00013
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met) rs776616540 0.00011
NM_000443.4(ABCB4):c.1982G>A (p.Arg661His) rs532332220 0.00009
NM_000443.4(ABCB4):c.2535T>C (p.Gly845=) rs545534537 0.00007
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=) rs561612231 0.00007
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000443.4(ABCB4):c.3231G>A (p.Thr1077=) rs376825608 0.00006
NM_000443.4(ABCB4):c.3476C>T (p.Thr1159Met) rs145056464 0.00005
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.2869C>T (p.Arg957Ter) rs121918440 0.00002
NM_000443.4(ABCB4):c.3372C>T (p.Cys1124=) rs886062459 0.00002
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp) rs754287486 0.00002
NM_000443.4(ABCB4):c.697G>A (p.Val233Ile) rs774347020 0.00002
NM_000443.4(ABCB4):c.1281G>C (p.Leu427=) rs761918535 0.00001
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) rs121918441 0.00001
NM_000443.4(ABCB4):c.1744C>T (p.Arg582Trp) rs1444056772 0.00001
NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln) rs760153272 0.00001
NM_000443.4(ABCB4):c.1858A>G (p.Lys620Glu) rs886062460 0.00001
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=) rs553616378 0.00001
NM_000443.4(ABCB4):c.1970G>T (p.Gly657Val) rs367709575 0.00001
NM_000443.4(ABCB4):c.2055C>T (p.Thr685=) rs747255117 0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867 0.00001
NM_000443.4(ABCB4):c.2287A>T (p.Ile763Phe) rs757015492 0.00001
NM_000443.4(ABCB4):c.2591T>C (p.Val864Ala) rs1809055658 0.00001
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser) rs779829759 0.00001
NM_000443.4(ABCB4):c.2932T>C (p.Ser978Pro) rs1051861187 0.00001
NM_000443.4(ABCB4):c.3144C>T (p.Asn1048=) rs8187807 0.00001
NM_000443.4(ABCB4):c.3230C>T (p.Thr1077Met) rs754565782 0.00001
NM_000443.4(ABCB4):c.3409C>T (p.Arg1137Trp) rs747453583 0.00001
NM_000443.4(ABCB4):c.3486+1G>A rs764513998 0.00001
NM_000443.4(ABCB4):c.3588C>T (p.Leu1196=) rs370310867 0.00001
NM_000443.4(ABCB4):c.430C>T (p.Arg144Ter) rs72552780 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_000443.4(ABCB4):c.1005+3A>G rs1811389784
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs) rs753104429
NM_000443.4(ABCB4):c.1091C>T (p.Ala364Val)
NM_000443.4(ABCB4):c.109G>T (p.Val37Leu) rs1813502867
NM_000443.4(ABCB4):c.1119+1G>T rs1584750660
NM_000443.4(ABCB4):c.1151G>T (p.Gly384Val) rs886894962
NM_000443.4(ABCB4):c.1196T>C (p.Val399Ala) rs2546838553
NM_000443.4(ABCB4):c.1277C>T (p.Ala426Val) rs1811115234
NM_000443.4(ABCB4):c.1328_1329delinsCAA (p.Gln443fs) rs387906528
NM_000443.4(ABCB4):c.1357-2A>C rs1584742063
NM_000443.4(ABCB4):c.1378A>T (p.Ile460Phe) rs1562976422
NM_000443.4(ABCB4):c.147C>A (p.Ser49=) rs8187789
NM_000443.4(ABCB4):c.1528A>G (p.Asn510Asp) rs2546829656
NM_000443.4(ABCB4):c.1560+3A>G rs2546829533
NM_000443.4(ABCB4):c.1712del (p.Val571fs) rs387906527
NM_000443.4(ABCB4):c.1846G>C (p.Glu616Gln) rs370195624
NM_000443.4(ABCB4):c.2044del (p.Asp682fs) rs1562965036
NM_000443.4(ABCB4):c.2161A>C (p.Asn721His) rs1809631786
NM_000443.4(ABCB4):c.2186C>T (p.Ser729Leu)
NM_000443.4(ABCB4):c.2211G>C (p.Ala737=)
NM_000443.4(ABCB4):c.2212A>C (p.Ile738Leu) rs1265968550
NM_000443.4(ABCB4):c.2242C>G (p.Gln748Glu) rs1809490932
NM_000443.4(ABCB4):c.2340C>A (p.Gly780=) rs148865252
NM_000443.4(ABCB4):c.2380G>C (p.Ala794Pro) rs1809302126
NM_000443.4(ABCB4):c.2478+7A>T rs778002144
NM_000443.4(ABCB4):c.2556C>A (p.Tyr852Ter) rs533310204
NM_000443.4(ABCB4):c.2590G>T (p.Val864Phe) rs764913373
NM_000443.4(ABCB4):c.2682+1G>A rs1012575668
NM_000443.4(ABCB4):c.2683-883_2783+345del
NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys) rs1808782267
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.2908T>C (p.Phe970Leu)
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter) rs759202962
NM_000443.4(ABCB4):c.3139_3141delinsCC (p.Ala1047fs)
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.3308T>G (p.Leu1103Arg) rs1808202820
NM_000443.4(ABCB4):c.334G>T (p.Glu112Ter) rs1204857679
NM_000443.4(ABCB4):c.3434dup (p.Ser1146fs) rs1584671714
NM_000443.4(ABCB4):c.3504G>A (p.Val1168=) rs1807938184
NM_000443.4(ABCB4):c.3506G>A (p.Gly1169Glu) rs866984082
NM_000443.4(ABCB4):c.3535C>T (p.Gln1179Ter) rs1584665400
NM_000443.4(ABCB4):c.3593T>A (p.Leu1198Ter)
NM_000443.4(ABCB4):c.3695G>A (p.Arg1232His) rs1160711086
NM_000443.4(ABCB4):c.3838T>A (p.Ter1280Arg) rs754770911
NM_000443.4(ABCB4):c.511A>G (p.Thr171Ala) rs542995265
NM_000443.4(ABCB4):c.593del (p.Ala198fs)
NM_000443.4(ABCB4):c.652del (p.Leu218_Val219insTer) rs1584763429
NM_000443.4(ABCB4):c.716C>G (p.Ser239Trp)
NM_000443.4(ABCB4):c.742G>C (p.Ala248Pro) rs2546854263
NM_000443.4(ABCB4):c.766G>A (p.Ala256Thr) rs2546854166
NM_000443.4(ABCB4):c.779T>C (p.Leu260Pro) rs1554409388
NM_000443.4(ABCB4):c.793A>T (p.Thr265Ser) rs2546853979
NM_000443.4(ABCB4):c.805T>C (p.Phe269Leu) rs756070393
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) rs1430830807
NM_000443.4(ABCB4):c.893del (p.Asn298fs) rs1584754766
NM_000443.4(ABCB4):c.905G>A (p.Gly302Asp) rs1584754706

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