ClinVar Miner

List of variants in gene ABCC2 reported as pathogenic for not provided

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Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_000392.5(ABCC2):c.1967+1G>A rs146405172 0.00078
NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter) rs72558199 0.00053
NM_000392.5(ABCC2):c.3258+1G>A rs762243203 0.00017
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp) rs56199535 0.00010
NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter) rs17222547 0.00009
NM_000392.5(ABCC2):c.3449G>A (p.Arg1150His) rs72558200 0.00009
NM_000392.5(ABCC2):c.974C>G (p.Ser325Ter) rs371866713 0.00006
NM_000392.5(ABCC2):c.1031+4A>G rs373384181 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.1177C>T (p.Arg393Trp) rs777902199 0.00003
NM_000392.5(ABCC2):c.3500dup (p.Ser1168fs) rs1333544687 0.00003
NM_000392.5(ABCC2):c.3463del (p.Thr1155fs) rs919078015 0.00002
NM_000392.5(ABCC2):c.3538C>T (p.Gln1180Ter) rs183923599 0.00002
NM_000392.5(ABCC2):c.3811C>T (p.Arg1271Ter) rs761406918 0.00002
NM_000392.5(ABCC2):c.697dup (p.Met233fs) rs1314486961 0.00002
NM_000392.5(ABCC2):c.1291del (p.Leu431fs) rs1208873596 0.00001
NM_000392.5(ABCC2):c.1893C>A (p.Cys631Ter) rs1257076487 0.00001
NM_000392.5(ABCC2):c.1967+2T>C rs387906396 0.00001
NM_000392.5(ABCC2):c.2077G>A (p.Gly693Arg) rs765570396 0.00001
NM_000392.5(ABCC2):c.2260del (p.Ile754fs) rs1564687941 0.00001
NM_000392.5(ABCC2):c.2362_2363del (p.Leu788fs) rs772673105 0.00001
NM_000392.5(ABCC2):c.2426del (p.Leu809fs) rs765580991 0.00001
NM_000392.5(ABCC2):c.2439+2T>C rs200606989 0.00001
NM_000392.5(ABCC2):c.3517A>T (p.Ile1173Phe) rs72558201 0.00001
NM_000392.5(ABCC2):c.3580C>T (p.Gln1194Ter) rs559137047 0.00001
NM_000392.5(ABCC2):c.821_822del (p.Pro274fs) rs1158274146 0.00001
NC_000010.10:g.(?_101542602)_(101544558_?)del
NC_000010.10:g.(?_101542602)_(101611388_?)del
NC_000010.10:g.(?_101551971)_(101554245_?)del
NC_000010.10:g.(?_101551971)_(101560340_?)del
NC_000010.10:g.(?_101556834)_(101560340_?)del
NC_000010.10:g.(?_101563756)_(101568006_?)del
NC_000010.10:g.(?_101567121)_(101577261_?)del
NC_000010.10:g.(?_101571273)_(101572921_?)del
NC_000010.10:g.(?_101593768)_(101596044_?)del
NC_000010.10:g.(?_101594117)_(101606904_?)del
NM_000392.4(ABCC2):c.2322dup (p.Thr775Tyrfs) rs1554851699
NM_000392.5(ABCC2):c.1014_1017del (p.Ser339fs) rs1564674618
NM_000392.5(ABCC2):c.1052del (p.Ser351fs)
NM_000392.5(ABCC2):c.1074G>A (p.Trp358Ter)
NM_000392.5(ABCC2):c.1080dup (p.Tyr361fs)
NM_000392.5(ABCC2):c.1089_1090del (p.Ala364fs)
NM_000392.5(ABCC2):c.1203_1205del (p.Tyr401_Lys402delinsTer)
NM_000392.5(ABCC2):c.1325G>A (p.Trp442Ter) rs776087856
NM_000392.5(ABCC2):c.1326G>A (p.Trp442Ter)
NM_000392.5(ABCC2):c.1372G>T (p.Glu458Ter)
NM_000392.5(ABCC2):c.1617del (p.Phe539fs)
NM_000392.5(ABCC2):c.1621C>T (p.Gln541Ter) rs903690171
NM_000392.5(ABCC2):c.1651C>T (p.Gln551Ter) rs1554849397
NM_000392.5(ABCC2):c.1655dup (p.Leu552fs)
NM_000392.5(ABCC2):c.1695T>G (p.Tyr565Ter)
NM_000392.5(ABCC2):c.1733dup (p.Ala579fs)
NM_000392.5(ABCC2):c.1858del (p.Asp620fs)
NM_000392.5(ABCC2):c.1882C>T (p.Arg628Ter) rs775410341
NM_000392.5(ABCC2):c.1939G>T (p.Glu647Ter)
NM_000392.5(ABCC2):c.1963C>T (p.Arg655Ter)
NM_000392.5(ABCC2):c.1968-1G>C rs756707816
NM_000392.5(ABCC2):c.1998dup (p.Val667fs)
NM_000392.5(ABCC2):c.2026G>C (p.Gly676Arg)
NM_000392.5(ABCC2):c.2077G>C (p.Gly693Arg)
NM_000392.5(ABCC2):c.2125T>C (p.Trp709Arg) rs764958537
NM_000392.5(ABCC2):c.2153del (p.Asn718fs)
NM_000392.5(ABCC2):c.2293C>T (p.Gln765Ter)
NM_000392.5(ABCC2):c.2325del (p.Tyr776fs) rs1564688595
NM_000392.5(ABCC2):c.2326_2329del (p.Tyr776fs)
NM_000392.5(ABCC2):c.2333del (p.Asn778fs)
NM_000392.5(ABCC2):c.2337_2338insCC (p.Asp780fs)
NM_000392.5(ABCC2):c.2360_2366del (p.Pro787fs)
NM_000392.5(ABCC2):c.2395_2396del (p.Ile799fs)
NM_000392.5(ABCC2):c.2458del (p.His820fs)
NM_000392.5(ABCC2):c.2556del (p.Gly853fs)
NM_000392.5(ABCC2):c.2556dup (p.Gly853fs) rs1393497113
NM_000392.5(ABCC2):c.2578A>T (p.Lys860Ter)
NM_000392.5(ABCC2):c.2603del (p.Pro868fs)
NM_000392.5(ABCC2):c.2910C>G (p.Tyr970Ter)
NM_000392.5(ABCC2):c.2914C>T (p.Gln972Ter)
NM_000392.5(ABCC2):c.2931_2995del (p.Phe977fs)
NM_000392.5(ABCC2):c.298C>T (p.Arg100Ter)
NM_000392.5(ABCC2):c.2992del (p.Leu998fs)
NM_000392.5(ABCC2):c.3009G>A (p.Trp1003Ter)
NM_000392.5(ABCC2):c.3081C>G (p.Tyr1027Ter)
NM_000392.5(ABCC2):c.3100del (p.Gln1034fs)
NM_000392.5(ABCC2):c.3158C>G (p.Ser1053Ter)
NM_000392.5(ABCC2):c.3216dup (p.Asp1073Ter) rs771652807
NM_000392.5(ABCC2):c.3220_3226del (p.Thr1074fs) rs777325157
NM_000392.5(ABCC2):c.3258+2T>A
NM_000392.5(ABCC2):c.3422_3423del (p.Tyr1141fs) rs774778158
NM_000392.5(ABCC2):c.3472_3473del (p.Pro1158fs) rs762291612
NM_000392.5(ABCC2):c.3533del (p.His1178fs)
NM_000392.5(ABCC2):c.3541C>T (p.Arg1181Ter)
NM_000392.5(ABCC2):c.3589_3590del (p.Val1197fs)
NM_000392.5(ABCC2):c.3599G>A (p.Trp1200Ter) rs577353173
NM_000392.5(ABCC2):c.3687_3690del (p.Ile1228_Tyr1229insTer)
NM_000392.5(ABCC2):c.3741+1G>A rs34937870
NM_000392.5(ABCC2):c.3741+1G>T rs34937870
NM_000392.5(ABCC2):c.3825C>G (p.Tyr1275Ter)
NM_000392.5(ABCC2):c.3857_3860del (p.Thr1286fs)
NM_000392.5(ABCC2):c.3928C>T (p.Arg1310Ter)
NM_000392.5(ABCC2):c.3958del (p.Ile1320fs)
NM_000392.5(ABCC2):c.3966T>A (p.Cys1322Ter)
NM_000392.5(ABCC2):c.407G>A (p.Trp136Ter)
NM_000392.5(ABCC2):c.4120C>T (p.Arg1374Ter)
NM_000392.5(ABCC2):c.4144C>T (p.Gln1382Ter)
NM_000392.5(ABCC2):c.4203C>A (p.Tyr1401Ter)
NM_000392.5(ABCC2):c.4239_4240dup (p.His1414fs) rs762346634
NM_000392.5(ABCC2):c.4239_4240insTC (p.His1414fs) rs1554854612
NM_000392.5(ABCC2):c.4246A>T (p.Lys1416Ter) rs1564702358
NM_000392.5(ABCC2):c.4285G>T (p.Glu1429Ter)
NM_000392.5(ABCC2):c.4327C>T (p.Gln1443Ter)
NM_000392.5(ABCC2):c.4333del (p.Leu1445fs)
NM_000392.5(ABCC2):c.4384del (p.Glu1462fs)
NM_000392.5(ABCC2):c.4413del (p.Asp1472fs)
NM_000392.5(ABCC2):c.4438C>T (p.Gln1480Ter)
NM_000392.5(ABCC2):c.466C>T (p.Gln156Ter)
NM_000392.5(ABCC2):c.476del (p.Asn159fs) rs769798659
NM_000392.5(ABCC2):c.513del (p.Tyr172fs)
NM_000392.5(ABCC2):c.569C>A (p.Ser190Ter)
NM_000392.5(ABCC2):c.584_590del (p.Pro194_Ser195insTer) rs2132976682
NM_000392.5(ABCC2):c.618C>A (p.Tyr206Ter)
NM_000392.5(ABCC2):c.627T>A (p.Tyr209Ter)
NM_000392.5(ABCC2):c.627dup (p.Asp210Ter)
NM_000392.5(ABCC2):c.787A>T (p.Lys263Ter)
NM_000392.5(ABCC2):c.807_808delinsCT (p.Gly270Ter)
NM_000392.5(ABCC2):c.890del (p.Lys297fs)
NM_000392.5(ABCC2):c.890dup (p.Lys298fs)
NM_000392.5(ABCC2):c.909_921del (p.Lys303fs)
NM_000392.5(ABCC2):c.921dup (p.Ser308fs)
NM_000392.5(ABCC2):c.934A>T (p.Lys312Ter)

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