ClinVar Miner

List of variants in gene ATP6V0A4 reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
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_020632.3(ATP6V0A4):c.1573-86T>C rs1037692 0.74906
NM_020632.3(ATP6V0A4):c.1662C>T (p.Phe554=) rs1026435 0.69705
NM_020632.3(ATP6V0A4):c.5T>C (p.Val2Ala) rs10258719 0.69303
NM_020632.3(ATP6V0A4):c.722+79T>C rs296910 0.68266
NM_020632.3(ATP6V0A4):c.1812T>C (p.His604=) rs3807154 0.65254
NM_020632.3(ATP6V0A4):c.1478+45G>A rs55843107 0.33512
NM_020632.3(ATP6V0A4):c.1478+17A>G rs6467797 0.26043
NM_020632.3(ATP6V0A4):c.*239G>A rs8846 0.22481
NM_020632.3(ATP6V0A4):c.*162C>T rs55832008 0.09943
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153 0.09195
NM_020632.3(ATP6V0A4):c.1155C>T (p.Val385=) rs58568563 0.05118
NM_020632.3(ATP6V0A4):c.-25C>G rs35301422 0.04265
NM_020632.3(ATP6V0A4):c.1888G>A (p.Ala630Thr) rs73730479 0.03401
NM_020632.3(ATP6V0A4):c.*111C>A rs75920897 0.03190
NM_020632.3(ATP6V0A4):c.512+4A>G rs78194949 0.02390
NM_020632.3(ATP6V0A4):c.2306C>T (p.Thr769Met) rs61747678 0.01647
NM_020632.3(ATP6V0A4):c.2307G>A (p.Thr769=) rs61747677 0.01096
NM_020632.3(ATP6V0A4):c.417+14G>C rs141824671 0.01075
NM_020632.3(ATP6V0A4):c.1641G>A (p.Leu547=) rs61747675 0.01050
NM_020632.3(ATP6V0A4):c.735T>C (p.Thr245=) rs77328827 0.00942
NM_020632.3(ATP6V0A4):c.1557G>A (p.Pro519=) rs74921348 0.00694
NM_020632.3(ATP6V0A4):c.816+19C>T rs80076422 0.00643
NM_020632.3(ATP6V0A4):c.1033C>A (p.Leu345Ile) rs61747674 0.00612
NM_020632.3(ATP6V0A4):c.755C>G (p.Pro252Arg) rs61747681 0.00547
NM_020632.3(ATP6V0A4):c.2035G>T (p.Asp679Tyr) rs150777839 0.00506
NM_020632.3(ATP6V0A4):c.1848C>T (p.Phe616=) rs143883618 0.00500
NM_020632.3(ATP6V0A4):c.1181-4G>A rs189734354 0.00488
NM_020632.3(ATP6V0A4):c.*73C>T rs78419825 0.00354
NM_020632.3(ATP6V0A4):c.1956G>A (p.Pro652=) rs141411124 0.00060
NM_020632.3(ATP6V0A4):c.1498A>G (p.Ser500Gly) rs142818468 0.00048
NM_020632.3(ATP6V0A4):c.1029+5G>A rs147476317 0.00011

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.