ClinVar Miner

List of variants in gene ABCC2 studied for bilirubin metabolism disease

Included ClinVar conditions (39):
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Gene type:
ClinVar version:
Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_000392.5(ABCC2):c.3258+56T>C rs4148396 0.65059
NM_000392.5(ABCC2):c.1249G>A (p.Val417Ile) rs2273697 0.18388
NM_000392.5(ABCC2):c.-24C>T rs717620 0.15338
NM_000392.5(ABCC2):c.4544G>A (p.Cys1515Tyr) rs8187710 0.08637
NM_000392.5(ABCC2):c.4146+11G>C rs17216282 0.05624
NM_000392.5(ABCC2):c.4508+12G>A rs17216212 0.05622
NM_000392.5(ABCC2):c.4290G>T (p.Val1430=) rs1137968 0.05618
NM_000392.5(ABCC2):c.3563T>A (p.Val1188Glu) rs17222723 0.05531
NM_000392.5(ABCC2):c.4488C>T (p.His1496=) rs8187707 0.04774
NM_000392.5(ABCC2):c.4410G>A (p.Glu1470=) rs8187706 0.03502
NM_000392.5(ABCC2):c.4110C>T (p.Leu1370=) rs7899457 0.03237
NM_000392.5(ABCC2):c.4062C>T (p.Ala1354=) rs17216275 0.01590
NM_000392.5(ABCC2):c.1058G>A (p.Arg353His) rs7080681 0.01505
NM_000392.5(ABCC2):c.2546T>G (p.Leu849Arg) rs17222617 0.01435
NM_000392.5(ABCC2):c.1446C>G (p.Thr482=) rs113646094 0.01182
NM_000392.5(ABCC2):c.*259G>T rs138578110 0.00931
NM_000392.5(ABCC2):c.1219C>T (p.Leu407=) rs17216198 0.00876
NM_000392.5(ABCC2):c.842G>A (p.Ser281Asn) rs56131651 0.00539
NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr) rs45441199 0.00494
NM_000392.5(ABCC2):c.2009T>C (p.Ile670Thr) rs17222632 0.00388
NM_000392.5(ABCC2):c.1483A>G (p.Lys495Glu) rs17222561 0.00355
NM_000392.5(ABCC2):c.3817A>G (p.Thr1273Ala) rs8187699 0.00331
NM_000392.5(ABCC2):c.*201C>T rs150176505 0.00327
NM_000392.5(ABCC2):c.4509-9T>C rs180717330 0.00294
NM_000392.5(ABCC2):c.4527C>T (p.Asn1509=) rs8187709 0.00269
NM_000392.5(ABCC2):c.1032-3C>T rs139800035 0.00253
NM_000392.5(ABCC2):c.4430C>T (p.Thr1477Met) rs142573385 0.00173
NM_000392.5(ABCC2):c.3188A>G (p.Asn1063Ser) rs17222540 0.00165
NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=) rs144192700 0.00159
NM_000392.5(ABCC2):c.2073C>A (p.Val691=) rs17222624 0.00155
NM_000392.5(ABCC2):c.2944A>G (p.Ile982Val) rs17222554 0.00140
NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly) rs17222674 0.00120
NM_000392.5(ABCC2):c.4313+11A>C rs17222681 0.00107
NM_000392.5(ABCC2):c.2934G>A (p.Ser978=) rs3740070 0.00080
NM_000392.5(ABCC2):c.1860T>A (p.Asp620Glu) rs141413284 0.00075
NM_000392.5(ABCC2):c.3521G>A (p.Arg1174His) rs139188247 0.00057
NM_000392.5(ABCC2):c.2613A>G (p.Glu871=) rs76302654 0.00056
NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter) rs72558199 0.00053
NM_000392.5(ABCC2):c.736A>C (p.Met246Leu) rs17222744 0.00051
NM_000392.5(ABCC2):c.2095-6A>G rs202210861 0.00049
NM_000392.5(ABCC2):c.3236G>A (p.Arg1079Gln) rs145672804 0.00044
NM_000392.5(ABCC2):c.3008G>T (p.Trp1003Leu) rs147566977 0.00040
NM_000392.5(ABCC2):c.1007C>T (p.Thr336Met) rs149854486 0.00039
NM_000392.5(ABCC2):c.-23G>A rs17216156 0.00038
NM_000392.5(ABCC2):c.3648C>A (p.Asn1216Lys) rs144967259 0.00038
NM_000392.5(ABCC2):c.1250T>C (p.Val417Ala) rs199595780 0.00036
NM_000392.5(ABCC2):c.3057G>C (p.Gln1019His) rs144521346 0.00026
NM_000392.5(ABCC2):c.-43A>G rs765935481 0.00024
NM_000392.5(ABCC2):c.3500T>C (p.Val1167Ala) rs140680467 0.00024
NM_000392.5(ABCC2):c.1602G>T (p.Lys534Asn) rs149593061 0.00022
NM_000392.5(ABCC2):c.1696G>A (p.Val566Ile) rs145520251 0.00022
NM_000392.5(ABCC2):c.33+13A>G rs368321703 0.00022
NM_000392.5(ABCC2):c.4348G>T (p.Ala1450Ser) rs56296335 0.00021
NM_000392.5(ABCC2):c.-40T>C rs200685599 0.00020
NM_000392.5(ABCC2):c.577-11G>T rs200883270 0.00019
NM_000392.5(ABCC2):c.1209+14G>A rs201946946 0.00018
NM_000392.5(ABCC2):c.2366C>T (p.Ser789Phe) rs56220353 0.00017
NM_000392.5(ABCC2):c.2093A>G (p.Lys698Arg) rs199859869 0.00015
NM_000392.5(ABCC2):c.764G>A (p.Arg255Gln) rs139964853 0.00015
NM_000392.5(ABCC2):c.4454A>G (p.His1485Arg) rs780026074 0.00013
NM_000392.5(ABCC2):c.2964G>T (p.Met988Ile) rs145105011 0.00012
NM_000392.5(ABCC2):c.3081C>T (p.Tyr1027=) rs201212360 0.00012
NM_000392.5(ABCC2):c.3239T>C (p.Ile1080Thr) rs138221862 0.00011
NM_000392.5(ABCC2):c.3888C>G (p.Ser1296Arg) rs143990242 0.00011
NM_000392.5(ABCC2):c.1457C>T (p.Thr486Ile) rs17222589 0.00010
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp) rs56199535 0.00010
NM_000392.5(ABCC2):c.2911C>G (p.Leu971Val) rs772482844 0.00010
NM_000392.5(ABCC2):c.3449G>A (p.Arg1150His) rs72558200 0.00009
NM_000392.5(ABCC2):c.3834G>A (p.Val1278=) rs150472537 0.00009
NM_000392.5(ABCC2):c.23C>T (p.Ser8Phe) rs375147383 0.00008
NM_000392.5(ABCC2):c.1179G>A (p.Arg393=) rs200104823 0.00006
NM_000392.5(ABCC2):c.3147C>T (p.Phe1049=) rs777983705 0.00006
NM_000392.5(ABCC2):c.3576C>G (p.Thr1192=) rs146575217 0.00006
NM_000392.5(ABCC2):c.214G>A (p.Val72Ile) rs148791847 0.00005
NM_000392.5(ABCC2):c.576+1G>A rs376398719 0.00005
NM_000392.5(ABCC2):c.1031+4A>G rs373384181 0.00004
NM_000392.5(ABCC2):c.1032-14C>A rs754368880 0.00004
NM_000392.5(ABCC2):c.1586G>A (p.Arg529Gln) rs781337846 0.00004
NM_000392.5(ABCC2):c.2443C>T (p.Arg815Ter) rs773850184 0.00004
NM_000392.5(ABCC2):c.3636dup (p.Leu1213fs) rs766573679 0.00004
NM_000392.5(ABCC2):c.517G>A (p.Gly173Arg) rs138663047 0.00004
NM_000392.5(ABCC2):c.577-3C>T rs370534491 0.00004
NM_000392.5(ABCC2):c.1177C>T (p.Arg393Trp) rs777902199 0.00003
NM_000392.5(ABCC2):c.2020G>A (p.Gly674Ser) rs778892744 0.00003
NM_000392.5(ABCC2):c.4447T>G (p.Phe1483Val) rs886046621 0.00003
NM_000392.5(ABCC2):c.732G>A (p.Thr244=) rs754060673 0.00003
NM_000392.5(ABCC2):c.1658C>T (p.Thr553Ile) rs191954987 0.00002
NM_000392.5(ABCC2):c.1855G>T (p.Gly619Trp) rs771619987 0.00002
NM_000392.5(ABCC2):c.2155A>G (p.Ile719Val) rs371103752 0.00002
NM_000392.5(ABCC2):c.3068G>T (p.Arg1023Ile) rs374311166 0.00002
NM_000392.5(ABCC2):c.3256G>A (p.Gly1086Ser) rs769152380 0.00002
NM_000392.5(ABCC2):c.3732T>G (p.Asn1244Lys) rs757141905 0.00002
NM_000392.5(ABCC2):c.3973G>A (p.Gly1325Ser) rs759452729 0.00002
NM_000392.5(ABCC2):c.4443C>T (p.Asn1481=) rs536104796 0.00002
NM_000392.5(ABCC2):c.4568A>C (p.Gln1523Pro) rs533470370 0.00002
NM_000392.5(ABCC2):c.*138T>C rs1326370975 0.00001
NM_000392.5(ABCC2):c.*205C>T rs551482378 0.00001
NM_000392.5(ABCC2):c.1008G>A (p.Thr336=) rs761197359 0.00001
NM_000392.5(ABCC2):c.1209+15G>A rs886046618 0.00001
NM_000392.5(ABCC2):c.1312A>G (p.Met438Val) rs769259115 0.00001
NM_000392.5(ABCC2):c.1815+4G>A rs574319283 0.00001
NM_000392.5(ABCC2):c.1967+2T>C rs387906396 0.00001
NM_000392.5(ABCC2):c.2076C>T (p.His692=) rs552538259 0.00001
NM_000392.5(ABCC2):c.2296A>C (p.Lys766Gln) rs1369784733 0.00001
NM_000392.5(ABCC2):c.2362_2363del (p.Leu788fs) rs772673105 0.00001
NM_000392.5(ABCC2):c.2439+2T>C rs200606989 0.00001
NM_000392.5(ABCC2):c.2588T>C (p.Leu863Pro) rs201820826 0.00001
NM_000392.5(ABCC2):c.2963T>A (p.Met988Lys) rs748479566 0.00001
NM_000392.5(ABCC2):c.3025A>G (p.Ile1009Val) rs774137965 0.00001
NM_000392.5(ABCC2):c.3104-1G>A rs1054194575 0.00001
NM_000392.5(ABCC2):c.3517A>T (p.Ile1173Phe) rs72558201 0.00001
NM_000392.5(ABCC2):c.3742-12G>C rs1232223149 0.00001
NM_000392.5(ABCC2):c.3988-15G>C rs746609972 0.00001
NM_000392.5(ABCC2):c.4145A>G (p.Gln1382Arg) rs72558202 0.00001
NM_000392.5(ABCC2):c.606T>C (p.Ser202=) rs769209663 0.00001
NM_000392.5(ABCC2):c.*116del rs777704351
NM_000392.5(ABCC2):c.-89G>A rs2037637000
NM_000392.5(ABCC2):c.1013_1014del (p.Val338fs) rs864309675
NM_000392.5(ABCC2):c.1233C>T (p.Ala411=) rs886046619
NM_000392.5(ABCC2):c.1325G>A (p.Trp442Ter) rs776087856
NM_000392.5(ABCC2):c.1346T>C (p.Val449Ala) rs71488021
NM_000392.5(ABCC2):c.1389C>T (p.Val463=) rs2038059933
NM_000392.5(ABCC2):c.1434G>A (p.Ala478=) rs4267009
NM_000392.5(ABCC2):c.1783A>G (p.Met595Val) rs762486508
NM_000392.5(ABCC2):c.1815+2T>A rs387906395
NM_000392.5(ABCC2):c.1882C>T (p.Arg628Ter) rs775410341
NM_000392.5(ABCC2):c.1998dup (p.Val667fs)
NM_000392.5(ABCC2):c.2077G>C (p.Gly693Arg)
NM_000392.5(ABCC2):c.208-89C>T rs2756108
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000392.5(ABCC2):c.2273_2439+1del rs2133078815
NM_000392.5(ABCC2):c.2312T>C (p.Leu771Pro)
NM_000392.5(ABCC2):c.2439+12T>C rs766320733
NM_000392.5(ABCC2):c.2501T>C (p.Leu834Pro) rs2038480826
NM_000392.5(ABCC2):c.2955G>A (p.Ala985=) rs139082536
NM_000392.5(ABCC2):c.2997G>A (p.Trp999Ter) rs572224582
NM_000392.5(ABCC2):c.333+1G>A
NM_000392.5(ABCC2):c.3417G>A (p.Met1139Ile) rs752720879
NM_000392.5(ABCC2):c.351_355dup (p.Tyr119fs) rs1351419381
NM_000392.5(ABCC2):c.3542G>A (p.Arg1181Gln) rs8187692
NM_000392.5(ABCC2):c.3542G>T (p.Arg1181Leu) rs8187692
NM_000392.5(ABCC2):c.3614+1G>C rs2133124899
NM_000392.5(ABCC2):c.3741+1G>A rs34937870
NM_000392.5(ABCC2):c.3741+1G>T rs34937870
NM_000392.5(ABCC2):c.3815T>C (p.Ile1272Thr) rs886046620
NM_000392.5(ABCC2):c.3832G>T (p.Val1278Leu) rs2038979968
NM_000392.5(ABCC2):c.3851G>A (p.Trp1284Ter) rs1590192032
NM_000392.5(ABCC2):c.3972C>T (p.Ile1324=) rs3740066
NM_000392.5(ABCC2):c.4025C>A (p.Ser1342Tyr)
NM_000392.5(ABCC2):c.411del (p.Leu138fs) rs1564670777
NM_000392.5(ABCC2):c.415T>C (p.Ser139Pro)
NM_000392.5(ABCC2):c.584_590del (p.Pro194_Ser195insTer) rs2132976682
NM_000392.5(ABCC2):c.656G>A (p.Arg219His)
NM_000392.5(ABCC2):c.677T>A (p.Val226Asp) rs1382048442
NM_000392.5(ABCC2):c.929T>G (p.Leu310Trp)

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