ClinVar Miner

List of variants in gene ABCC2 reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_000392.5(ABCC2):c.2009T>C (p.Ile670Thr) rs17222632 0.00388
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.998A>G (p.Asp333Gly) rs17222674 0.00120
NM_000392.5(ABCC2):c.1860T>A (p.Asp620Glu) rs141413284 0.00075
NM_000392.5(ABCC2):c.2613A>G (p.Glu871=) rs76302654 0.00056
NM_000392.5(ABCC2):c.736A>C (p.Met246Leu) rs17222744 0.00051
NM_000392.5(ABCC2):c.3236G>A (p.Arg1079Gln) rs145672804 0.00044
NM_000392.5(ABCC2):c.1007C>T (p.Thr336Met) rs149854486 0.00039
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.1602G>T (p.Lys534Asn) rs149593061 0.00022
NM_000392.5(ABCC2):c.33+13A>G rs368321703 0.00022
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.2911C>G (p.Leu971Val) rs772482844 0.00010
NM_000392.5(ABCC2):c.3834G>A (p.Val1278=) rs150472537 0.00009
NM_000392.5(ABCC2):c.1179G>A (p.Arg393=) rs200104823 0.00006
NM_000392.5(ABCC2):c.23C>T (p.Ser8Phe) rs375147383 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.1031+4A>G rs373384181 0.00004
NM_000392.5(ABCC2):c.1032-14C>A rs754368880 0.00004
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.*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.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.2588T>C (p.Leu863Pro) rs201820826 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.3742-12G>C rs1232223149 0.00001
NM_000392.5(ABCC2):c.3988-15G>C rs746609972 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.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.2273G>T (p.Gly758Val) rs786205465
NM_000392.5(ABCC2):c.2439+12T>C rs766320733
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.3542G>A (p.Arg1181Gln) rs8187692
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.411del (p.Leu138fs) rs1564670777
NM_000392.5(ABCC2):c.677T>A (p.Val226Asp) rs1382048442

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