ClinVar Miner

List of variants in gene ATP6V0A1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001130021.3(ATP6V0A1):c.1976G>A (p.Arg659His) rs376300031 0.00008
NM_001130021.3(ATP6V0A1):c.1963C>T (p.Pro655Ser) rs781542880 0.00002
NM_001130021.3(ATP6V0A1):c.1231G>A (p.Gly411Ser) rs1189944326 0.00001
NM_001130021.3(ATP6V0A1):c.1483C>T (p.Arg495Trp) rs781278654 0.00001
NM_001130021.3(ATP6V0A1):c.1717A>C (p.Ile573Leu) rs1180072191 0.00001
NM_001130021.3(ATP6V0A1):c.1166T>G (p.Ile389Arg)
NM_001130021.3(ATP6V0A1):c.1168A>G (p.Asn390Asp)
NM_001130021.3(ATP6V0A1):c.1189A>T (p.Ile397Phe)
NM_001130021.3(ATP6V0A1):c.1310A>G (p.Asn437Ser) rs2510232683
NM_001130021.3(ATP6V0A1):c.1354T>G (p.Leu452Val)
NM_001130021.3(ATP6V0A1):c.1355T>G (p.Leu452Trp)
NM_001130021.3(ATP6V0A1):c.1366T>C (p.Phe456Leu)
NM_001130021.3(ATP6V0A1):c.1505T>C (p.Leu502Pro)
NM_001130021.3(ATP6V0A1):c.1508A>G (p.Asn503Ser) rs1005848561
NM_001130021.3(ATP6V0A1):c.1570A>G (p.Ile524Val)
NM_001130021.3(ATP6V0A1):c.1669T>C (p.Phe557Leu) rs1222072943
NM_001130021.3(ATP6V0A1):c.1739C>A (p.Thr580Asn)
NM_001130021.3(ATP6V0A1):c.181A>G (p.Met61Val) rs2509993494
NM_001130021.3(ATP6V0A1):c.1925T>A (p.Val642Asp)
NM_001130021.3(ATP6V0A1):c.2155C>T (p.His719Tyr) rs2510470005
NM_001130021.3(ATP6V0A1):c.2203A>G (p.Thr735Ala)
NM_001130021.3(ATP6V0A1):c.2438A>C (p.Lys813Thr)
NM_001130021.3(ATP6V0A1):c.2456G>A (p.Gly819Asp)
NM_001130021.3(ATP6V0A1):c.296C>G (p.Ala99Gly) rs2510033271
NM_001130021.3(ATP6V0A1):c.312T>G (p.Ile104Met) rs2510033476
NM_001130021.3(ATP6V0A1):c.328G>C (p.Glu110Gln)
NM_001130021.3(ATP6V0A1):c.482G>T (p.Gly161Val)
NM_001130021.3(ATP6V0A1):c.574C>T (p.Arg192Trp) rs2089059373
NM_001130021.3(ATP6V0A1):c.593G>A (p.Arg198Gln) rs2510108000
NM_001130021.3(ATP6V0A1):c.637G>A (p.Asp213Asn)
NM_001130021.3(ATP6V0A1):c.682C>G (p.Gln228Glu)

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.