ClinVar Miner

List of variants in gene ATP6V0A2 reported by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060
NM_012463.4(ATP6V0A2):c.1048G>A (p.Gly350Ser) rs768141782
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187
NM_012463.4(ATP6V0A2):c.118-7_118-3del rs777322469
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) rs532258057
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=) rs146156426
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641
NM_012463.4(ATP6V0A2):c.1514+1G>A rs374480381
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=) rs142454880
NM_012463.4(ATP6V0A2):c.1526T>G (p.Val509Gly) rs760212304
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) rs149700024
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791
NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys) rs768609186
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456
NM_012463.4(ATP6V0A2):c.2466-4_2466-3del rs370511382
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.304C>T (p.Gln102Ter) rs794727643
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961
NM_012463.4(ATP6V0A2):c.522-9G>A rs189175284
NM_012463.4(ATP6V0A2):c.652G>A (p.Glu218Lys) rs759593402
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) rs745590426
NM_012463.4(ATP6V0A2):c.825+2T>C rs398124257
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=) rs139680786
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) rs75746974

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.