ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP
NM_000392.3(ABCC2):c.2362_2363delCT (p.Leu788Valfs) rs772673105
NM_000392.4(ABCC2):c.2322dup (p.Thr775Tyrfs) rs1554851699
NM_000392.4(ABCC2):c.2426delT (p.Leu809Argfs) rs765580991
NM_000392.4(ABCC2):c.2855_2858delTTAA (p.Ile952Argfs) rs1554853026
NM_000392.4(ABCC2):c.3220_3226delACAACAC (p.Thr1074Profs) rs777325157
NM_000392.4(ABCC2):c.3399_3400delTT (p.Tyr1134Cysfs) rs762914474
NM_000392.4(ABCC2):c.3463delA (p.Thr1155Profs) rs919078015
NM_000392.4(ABCC2):c.476delA (p.Asn159Ilefs) rs769798659
NM_000392.5(ABCC2):c.1014_1017del (p.Ser339Leufs)
NM_000392.5(ABCC2):c.1291del (p.Leu431Serfs)
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)
NM_000392.5(ABCC2):c.1968-1G>C
NM_000392.5(ABCC2):c.207+1G>A
NM_000392.5(ABCC2):c.2125T>C (p.Trp709Arg) rs764958537
NM_000392.5(ABCC2):c.2260del (p.Ile754Leufs)
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp) rs56199535
NM_000392.5(ABCC2):c.2325del (p.Tyr776Thrfs)
NM_000392.5(ABCC2):c.2443C>T (p.Arg815Ter)
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.Asp1073Terfs)
NM_000392.5(ABCC2):c.3258+1G>A rs762243203
NM_000392.5(ABCC2):c.3422_3423del (p.Tyr1141Cysfs)
NM_000392.5(ABCC2):c.3472_3473del (p.Pro1158Asnfs)
NM_000392.5(ABCC2):c.3500dup (p.Ser1168Ilefs) 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.His1414Serfs) rs1554854612
NM_000392.5(ABCC2):c.4246A>T (p.Lys1416Ter)
NM_000392.5(ABCC2):c.697dup (p.Met233Asnfs)
NM_000392.5(ABCC2):c.821_822del (p.Pro274Argfs)
NM_000392.5(ABCC2):c.974C>G (p.Ser325Ter) rs371866713

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.