ClinVar Miner

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

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Total variants: 41
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HGVS dbSNP
NM_000392.4(ABCC2):c.2322dup (p.Thr775Tyrfs) rs1554851699
NM_000392.5(ABCC2):c.1014_1017del (p.Ser339fs) rs1564674618
NM_000392.5(ABCC2):c.1291del (p.Leu431fs) rs1208873596
NM_000392.5(ABCC2):c.1325G>A (p.Trp442Ter)
NM_000392.5(ABCC2):c.156T>A (p.Tyr52Ter) rs1554845888
NM_000392.5(ABCC2):c.1651C>T (p.Gln551Ter) rs1554849397
NM_000392.5(ABCC2):c.1893C>A (p.Cys631Ter) rs1257076487
NM_000392.5(ABCC2):c.1968-1G>C
NM_000392.5(ABCC2):c.207+1G>A rs1161530285
NM_000392.5(ABCC2):c.2125T>C (p.Trp709Arg) rs764958537
NM_000392.5(ABCC2):c.2260del (p.Ile754fs) rs1564687941
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp) rs56199535
NM_000392.5(ABCC2):c.2325del (p.Tyr776fs) rs1564688595
NM_000392.5(ABCC2):c.2362_2363del (p.Leu788fs) rs772673105
NM_000392.5(ABCC2):c.2426del (p.Leu809fs) rs765580991
NM_000392.5(ABCC2):c.2443C>T (p.Arg815Ter)
NM_000392.5(ABCC2):c.2855_2858del (p.Ile952fs) rs1554853026
NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter) rs17222547
NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter) rs72558199
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+1G>A rs762243203
NM_000392.5(ABCC2):c.3337del (p.Val1114fs) rs775771081
NM_000392.5(ABCC2):c.3399_3400del (p.Tyr1134fs) rs762914474
NM_000392.5(ABCC2):c.3422_3423del (p.Tyr1141fs) rs774778158
NM_000392.5(ABCC2):c.3463del (p.Thr1155fs) rs919078015
NM_000392.5(ABCC2):c.3472_3473del (p.Pro1158fs) rs762291612
NM_000392.5(ABCC2):c.3500dup (p.Ser1168fs) rs1333544687
NM_000392.5(ABCC2):c.3517A>T (p.Ile1173Phe) rs72558201
NM_000392.5(ABCC2):c.3538C>T (p.Gln1180Ter)
NM_000392.5(ABCC2):c.3580C>T (p.Gln1194Ter)
NM_000392.5(ABCC2):c.3599G>A (p.Trp1200Ter) rs577353173
NM_000392.5(ABCC2):c.3741+1G>A rs34937870
NM_000392.5(ABCC2):c.3741+1G>T
NM_000392.5(ABCC2):c.3811C>T (p.Arg1271Ter)
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.476del (p.Asn159fs) rs769798659
NM_000392.5(ABCC2):c.697dup (p.Met233fs) rs1314486961
NM_000392.5(ABCC2):c.821_822del (p.Pro274fs) rs1158274146
NM_000392.5(ABCC2):c.974C>G (p.Ser325Ter) rs371866713

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