ClinVar Miner

List of variants studied for cholestasis, intrahepatic, of pregnancy, 3

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 145
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.1357-40A>G rs31675 0.92657
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 0.75307
NM_000443.4(ABCB4):c.504C>T (p.Asn168=) rs1202283 0.41352
NM_000443.4(ABCB4):c.175C>T (p.Leu59=) rs2302387 0.23630
NM_000443.4(ABCB4):c.711A>T (p.Ile237=) rs2109505 0.22260
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028 0.15795
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801 0.02594
NM_000443.4(ABCB4):c.147C>T (p.Ser49=) rs8187789 0.01759
NM_000443.4(ABCB4):c.459T>C (p.Phe153=) rs2230027 0.01640
NM_000443.4(ABCB4):c.-6-4T>C rs8187785 0.01231
NM_000443.4(ABCB4):c.2325G>C (p.Thr775=) rs8187802 0.01001
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp) rs8187797 0.00888
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043 0.00495
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.-1G>A rs45449704 0.00181
NM_000443.4(ABCB4):c.1893+6T>C rs8187798 0.00175
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.217C>G (p.Leu73Val) rs8187788 0.00074
NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile) rs138773456 0.00073
NM_000443.4(ABCB4):c.696C>T (p.Ala232=) rs8187791 0.00068
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_003742.4(ABCB11):c.2191C>T (p.Pro731Ser) rs201240844 0.00021
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.1784G>A (p.Arg595Gln) rs144398632 0.00018
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_000443.4(ABCB4):c.927T>C (p.Tyr309=) rs199504845 0.00016
NM_000443.4(ABCB4):c.3553A>G (p.Ile1185Val) rs8187811 0.00014
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00013
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met) rs776616540 0.00011
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) rs11568372 0.00011
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_000443.4(ABCB4):c.1982G>A (p.Arg661His) rs532332220 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_000443.4(ABCB4):c.2535T>C (p.Gly845=) rs545534537 0.00006
NM_000443.4(ABCB4):c.3231G>A (p.Thr1077=) rs376825608 0.00006
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=) rs561612231 0.00006
NM_003742.4(ABCB11):c.2012-8T>G rs769910565 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_003742.4(ABCB11):c.3669G>C (p.Glu1223Asp) rs199649780 0.00002
NM_000443.4(ABCB4):c.1281G>C (p.Leu427=) rs761918535 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.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.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.805T>C (p.Phe269Leu) rs756070393 0.00001
NM_003742.4(ABCB11):c.1769A>G (p.Asp590Gly) rs886044710 0.00001
NM_000443.4(ABCB4):c.-18G>T rs886062461
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)
NM_000443.4(ABCB4):c.1196T>C (p.Val399Ala)
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)
NM_000443.4(ABCB4):c.1560+3A>G
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) rs121918441
NM_000443.4(ABCB4):c.1712del (p.Val571fs) rs387906527
NM_000443.4(ABCB4):c.1846G>C (p.Glu616Gln)
NM_000443.4(ABCB4):c.1858A>G (p.Lys620Glu) rs886062460
NM_000443.4(ABCB4):c.2044del (p.Asp682fs) rs1562965036
NM_000443.4(ABCB4):c.2161A>C (p.Asn721His) rs1809631786
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.2287A>T (p.Ile763Phe)
NM_000443.4(ABCB4):c.2340C>A (p.Gly780=) rs148865252
NM_000443.4(ABCB4):c.2380G>C (p.Ala794Pro)
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.2591T>C (p.Val864Ala) rs1809055658
NM_000443.4(ABCB4):c.2683-883_2783+345del
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.2908T>C (p.Phe970Leu)
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.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)
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)
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)
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)
NM_000443.4(ABCB4):c.766G>A (p.Ala256Thr)
NM_000443.4(ABCB4):c.779T>C (p.Leu260Pro) rs1554409388
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.