ClinVar Miner

List of variants in gene ABCC2 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 184
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HGVS dbSNP
NM_000392.4(ABCC2):c.2620+10_2620+12delAAG rs764566414
NM_000392.4(ABCC2):c.4175_4180delGGATGA (p.Arg1392_Met1393del) rs749662916
NM_000392.4(ABCC2):c.4561delC (p.Leu1521Cysfs) rs1554854998
NM_000392.5(ABCC2):c.1007C>G (p.Thr336Arg) rs149854486
NM_000392.5(ABCC2):c.1007C>T (p.Thr336Met) rs149854486
NM_000392.5(ABCC2):c.1032-3C>T rs139800035
NM_000392.5(ABCC2):c.1051A>G (p.Ser351Gly)
NM_000392.5(ABCC2):c.1088G>A (p.Cys363Tyr)
NM_000392.5(ABCC2):c.1109C>T (p.Ala370Val)
NM_000392.5(ABCC2):c.1178G>A (p.Arg393Gln)
NM_000392.5(ABCC2):c.1183G>A (p.Ala395Thr) rs886042227
NM_000392.5(ABCC2):c.1249_1250delGTinsAC (p.Val417Thr) rs1554848912
NM_000392.5(ABCC2):c.1261G>A (p.Val421Met)
NM_000392.5(ABCC2):c.1319T>G (p.Met440Arg)
NM_000392.5(ABCC2):c.1321C>A (p.Leu441Met) rs374787164
NM_000392.5(ABCC2):c.1344T>G (p.Ile448Met) rs370095941
NM_000392.5(ABCC2):c.136T>C (p.Trp46Arg) rs778300481
NM_000392.5(ABCC2):c.1408delAinsTTGG (p.Met470delinsLeuVal)
NM_000392.5(ABCC2):c.1429A>C (p.Asn477His)
NM_000392.5(ABCC2):c.1434G>A (p.Ala478=)
NM_000392.5(ABCC2):c.1446C>T (p.Thr482=)
NM_000392.5(ABCC2):c.1457C>T (p.Thr486Ile) rs17222589
NM_000392.5(ABCC2):c.1464+4A>C rs753102845
NM_000392.5(ABCC2):c.150C>T (p.His50=) rs200595851
NM_000392.5(ABCC2):c.1585C>T (p.Arg529Trp)
NM_000392.5(ABCC2):c.1586G>A (p.Arg529Gln)
NM_000392.5(ABCC2):c.1610T>C (p.Leu537Pro)
NM_000392.5(ABCC2):c.1696G>A (p.Val566Ile) rs145520251
NM_000392.5(ABCC2):c.1751C>A (p.Thr584Asn)
NM_000392.5(ABCC2):c.1769G>A (p.Arg590His)
NM_000392.5(ABCC2):c.1792A>G (p.Met598Val)
NM_000392.5(ABCC2):c.1835G>A (p.Arg612Gln) rs376124211
NM_000392.5(ABCC2):c.1860T>A (p.Asp620Glu) rs141413284
NM_000392.5(ABCC2):c.1876G>T (p.Ala626Ser)
NM_000392.5(ABCC2):c.1950G>A (p.Ser650=) rs138673546
NM_000392.5(ABCC2):c.1964G>A (p.Arg655Gln)
NM_000392.5(ABCC2):c.1981A>G (p.Ile661Val)
NM_000392.5(ABCC2):c.2034C>T (p.Ser678=) rs1554850241
NM_000392.5(ABCC2):c.2056G>A (p.Gly686Arg) rs1359163275
NM_000392.5(ABCC2):c.206A>C (p.Gln69Pro)
NM_000392.5(ABCC2):c.2077G>A (p.Gly693Arg)
NM_000392.5(ABCC2):c.208G>A (p.Val70Ile) rs199700510
NM_000392.5(ABCC2):c.2093A>G (p.Lys698Arg)
NM_000392.5(ABCC2):c.2095-7C>T rs774902843
NM_000392.5(ABCC2):c.2139C>T (p.Gly713=)
NM_000392.5(ABCC2):c.213C>T (p.Phe71=)
NM_000392.5(ABCC2):c.2149_2151del (p.Asp717del)
NM_000392.5(ABCC2):c.2151C>A (p.Asp717Glu) rs1554851498
NM_000392.5(ABCC2):c.2201T>C (p.Leu734Pro)
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000392.5(ABCC2):c.2303G>A (p.Arg768Gln)
NM_000392.5(ABCC2):c.2303G>C (p.Arg768Pro)
NM_000392.5(ABCC2):c.2306T>C (p.Ile769Thr)
NM_000392.5(ABCC2):c.232C>T (p.Leu78=)
NM_000392.5(ABCC2):c.2343C>G (p.Ile781Met)
NM_000392.5(ABCC2):c.2367T>G (p.Ser789=)
NM_000392.5(ABCC2):c.23C>T (p.Ser8Phe)
NM_000392.5(ABCC2):c.2408T>C (p.Val803Ala) rs148835620
NM_000392.5(ABCC2):c.2439+6A>C
NM_000392.5(ABCC2):c.2461A>G (p.Ser821Gly) rs147649283
NM_000392.5(ABCC2):c.2472T>C (p.Phe824=)
NM_000392.5(ABCC2):c.2499T>C (p.Val833=) rs75148532
NM_000392.5(ABCC2):c.2504G>A (p.Gly835Glu) rs369677401
NM_000392.5(ABCC2):c.258A>G (p.Val86=) rs142443276
NM_000392.5(ABCC2):c.2613A>G (p.Glu871=) rs76302654
NM_000392.5(ABCC2):c.263C>A (p.Thr88Lys)
NM_000392.5(ABCC2):c.2641G>A (p.Glu881Lys) rs757896583
NM_000392.5(ABCC2):c.2686G>A (p.Glu896Lys) rs377107178
NM_000392.5(ABCC2):c.2700C>T (p.Ser900=) rs1184984382
NM_000392.5(ABCC2):c.2714G>A (p.Arg905Lys) rs201874841
NM_000392.5(ABCC2):c.2715A>T (p.Arg905Ser) rs766697550
NM_000392.5(ABCC2):c.2729G>A (p.Arg910His)
NM_000392.5(ABCC2):c.2732G>A (p.Arg911Gln) rs767142650
NM_000392.5(ABCC2):c.2747+10C>T
NM_000392.5(ABCC2):c.2748-9del
NM_000392.5(ABCC2):c.2753G>C (p.Arg918Thr) rs746216620
NM_000392.5(ABCC2):c.2755T>A (p.Ser919Thr) rs775944091
NM_000392.5(ABCC2):c.2789C>T (p.Ser930Phe)
NM_000392.5(ABCC2):c.2800C>T (p.Arg934Trp)
NM_000392.5(ABCC2):c.2826C>T (p.Asp942=)
NM_000392.5(ABCC2):c.2883G>A (p.Lys961=)
NM_000392.5(ABCC2):c.2911C>G (p.Leu971Val)
NM_000392.5(ABCC2):c.2942T>C (p.Phe981Ser)
NM_000392.5(ABCC2):c.2955G>A (p.Ala985=) rs139082536
NM_000392.5(ABCC2):c.2963T>A (p.Met988Lys)
NM_000392.5(ABCC2):c.3008G>T (p.Trp1003Leu) rs147566977
NM_000392.5(ABCC2):c.3009G>C (p.Trp1003Cys)
NM_000392.5(ABCC2):c.3011C>T (p.Thr1004Ile)
NM_000392.5(ABCC2):c.3021T>C (p.Ser1007=)
NM_000392.5(ABCC2):c.3057G>A (p.Gln1019=)
NM_000392.5(ABCC2):c.3057G>C (p.Gln1019His)
NM_000392.5(ABCC2):c.306C>A (p.Thr102=) rs559908064
NM_000392.5(ABCC2):c.3081C>T (p.Tyr1027=) rs201212360
NM_000392.5(ABCC2):c.3082G>A (p.Gly1028Arg) rs148887680
NM_000392.5(ABCC2):c.3236G>A (p.Arg1079Gln) rs145672804
NM_000392.5(ABCC2):c.3298C>T (p.Arg1100Cys) rs142715085
NM_000392.5(ABCC2):c.3299G>A (p.Arg1100His) rs145186820
NM_000392.5(ABCC2):c.330A>G (p.Thr110=)
NM_000392.5(ABCC2):c.3335C>A (p.Thr1112Asn)
NM_000392.5(ABCC2):c.3376_3378del (p.Ile1126del)
NM_000392.5(ABCC2):c.3379G>A (p.Val1127Ile) rs370049107
NM_000392.5(ABCC2):c.339G>A (p.Leu113=) rs151304543
NM_000392.5(ABCC2):c.3402T>C (p.Tyr1134=)
NM_000392.5(ABCC2):c.3424G>C (p.Val1142Leu) rs375280444
NM_000392.5(ABCC2):c.3436C>T (p.Arg1146Cys) rs377550597
NM_000392.5(ABCC2):c.3437G>A (p.Arg1146His)
NM_000392.5(ABCC2):c.3442C>G (p.Leu1148Val)
NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=) rs144192700
NM_000392.5(ABCC2):c.3493G>A (p.Glu1165Lys) rs199938496
NM_000392.5(ABCC2):c.3498C>T (p.Thr1166=) rs564908429
NM_000392.5(ABCC2):c.3499G>A (p.Val1167Ile)
NM_000392.5(ABCC2):c.3500T>C (p.Val1167Ala) rs140680467
NM_000392.5(ABCC2):c.3521G>A (p.Arg1174His) rs139188247
NM_000392.5(ABCC2):c.3524C>T (p.Ala1175Val)
NM_000392.5(ABCC2):c.3525C>G (p.Ala1175=) rs1554853606
NM_000392.5(ABCC2):c.3547C>A (p.Leu1183Met) rs145008610
NM_000392.5(ABCC2):c.3561G>A (p.Glu1187=) rs17216324
NM_000392.5(ABCC2):c.3576C>G (p.Thr1192=) rs146575217
NM_000392.5(ABCC2):c.3583A>G (p.Lys1195Glu)
NM_000392.5(ABCC2):c.3591C>G (p.Val1197=)
NM_000392.5(ABCC2):c.3614+6G>C rs17222716
NM_000392.5(ABCC2):c.3615G>A (p.Arg1205=)
NM_000392.5(ABCC2):c.3648C>A (p.Asn1216Lys) rs144967259
NM_000392.5(ABCC2):c.3690A>C (p.Arg1230Ser) rs753282654
NM_000392.5(ABCC2):c.3752C>T (p.Thr1251Ile)
NM_000392.5(ABCC2):c.3772A>G (p.Met1258Val)
NM_000392.5(ABCC2):c.3796A>G (p.Ile1266Val)
NM_000392.5(ABCC2):c.3834G>A (p.Val1278=)
NM_000392.5(ABCC2):c.3873G>A (p.Pro1291=) rs765304225
NM_000392.5(ABCC2):c.3888C>G (p.Ser1296Arg) rs143990242
NM_000392.5(ABCC2):c.3927C>T (p.Tyr1309=) rs4148401
NM_000392.5(ABCC2):c.3944T>G (p.Leu1315Arg) rs1554854276
NM_000392.5(ABCC2):c.3973G>A (p.Gly1325Ser) rs759452729
NM_000392.5(ABCC2):c.3987+10G>A rs373365135
NM_000392.5(ABCC2):c.400C>T (p.Leu134=)
NM_000392.5(ABCC2):c.4039C>T (p.Leu1347Phe)
NM_000392.5(ABCC2):c.4046G>C (p.Arg1349Thr)
NM_000392.5(ABCC2):c.4071G>C (p.Gln1357His) rs148393425
NM_000392.5(ABCC2):c.4075A>C (p.Ile1359Leu) rs142700351
NM_000392.5(ABCC2):c.4079T>C (p.Ile1360Thr)
NM_000392.5(ABCC2):c.4159T>C (p.Phe1387Leu)
NM_000392.5(ABCC2):c.4160T>C (p.Phe1387Ser) rs1554854589
NM_000392.5(ABCC2):c.4179G>T (p.Met1393Ile) rs779736415
NM_000392.5(ABCC2):c.417G>T (p.Ser139=)
NM_000392.5(ABCC2):c.4240C>T (p.His1414Tyr)
NM_000392.5(ABCC2):c.4314C>T (p.Ser1438=) rs376790802
NM_000392.5(ABCC2):c.4317A>G (p.Ile1439Met)
NM_000392.5(ABCC2):c.4348G>T (p.Ala1450Ser) rs56296335
NM_000392.5(ABCC2):c.4350T>C (p.Ala1450=)
NM_000392.5(ABCC2):c.4357C>T (p.Arg1453Trp) rs769022665
NM_000392.5(ABCC2):c.4382A>G (p.Asp1461Gly) rs201658889
NM_000392.5(ABCC2):c.4398G>A (p.Ala1466=) rs780515921
NM_000392.5(ABCC2):c.4430C>T (p.Thr1477Met) rs142573385
NM_000392.5(ABCC2):c.4431G>A (p.Thr1477=)
NM_000392.5(ABCC2):c.4439A>G (p.Gln1480Arg)
NM_000392.5(ABCC2):c.4449C>T (p.Phe1483=) rs756299268
NM_000392.5(ABCC2):c.4494C>G (p.Ile1498Met) rs539252097
NM_000392.5(ABCC2):c.4495A>G (p.Met1499Val) rs149200446
NM_000392.5(ABCC2):c.4507_4508+2del
NM_000392.5(ABCC2):c.4528G>A (p.Gly1510Arg)
NM_000392.5(ABCC2):c.4538T>C (p.Ile1513Thr)
NM_000392.5(ABCC2):c.4546G>A (p.Gly1516Ser)
NM_000392.5(ABCC2):c.4555G>A (p.Glu1519Lys)
NM_000392.5(ABCC2):c.4566A>C (p.Leu1522=)
NM_000392.5(ABCC2):c.4580C>T (p.Pro1527Leu) rs776473749
NM_000392.5(ABCC2):c.4581C>T (p.Pro1527=)
NM_000392.5(ABCC2):c.469-9T>C rs147614414
NM_000392.5(ABCC2):c.470G>T (p.Gly157Val) rs140550051
NM_000392.5(ABCC2):c.517G>A (p.Gly173Arg)
NM_000392.5(ABCC2):c.577-3C>T rs370534491
NM_000392.5(ABCC2):c.601C>T (p.Leu201=)
NM_000392.5(ABCC2):c.636C>A (p.Ile212=)
NM_000392.5(ABCC2):c.650A>C (p.Tyr217Ser) rs202129492
NM_000392.5(ABCC2):c.655C>T (p.Arg219Cys)
NM_000392.5(ABCC2):c.682G>A (p.Glu228Lys)
NM_000392.5(ABCC2):c.718A>G (p.Ser240Gly) rs750440697
NM_000392.5(ABCC2):c.736A>C (p.Met246Leu) rs17222744
NM_000392.5(ABCC2):c.736A>T (p.Met246Leu)
NM_000392.5(ABCC2):c.763C>T (p.Arg255Trp)
NM_000392.5(ABCC2):c.855T>C (p.Asp285=)
NM_000392.5(ABCC2):c.908A>G (p.Lys303Arg)
NM_000392.5(ABCC2):c.958A>G (p.Met320Val) rs375385616
NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly) rs17222674
NM_000392.5(ABCC2):c.99G>A (p.Val33=) rs376241522

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