ClinVar Miner

List of variants in gene ATP6V0A2 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 87
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012463.3(ATP6V0A2):c.-511T>A rs767739299 0.02519
NM_012463.4(ATP6V0A2):c.521+40C>T rs111865336 0.02049
NM_012463.4(ATP6V0A2):c.295-265G>A rs113418391 0.01424
NM_012463.4(ATP6V0A2):c.118-73G>A rs114594614 0.01368
NM_012463.4(ATP6V0A2):c.1039-94C>A rs76451484 0.01099
NM_012463.4(ATP6V0A2):c.732-247C>T rs112784463 0.01085
NM_012463.4(ATP6V0A2):c.1190-115T>C rs112570022 0.01072
NM_012463.4(ATP6V0A2):c.1039-32T>A rs117654599 0.00926
NC_000012.12:g.123712122T>C rs115697861 0.00847
NM_012463.4(ATP6V0A2):c.649-36G>A rs143993135 0.00721
NM_012463.4(ATP6V0A2):c.522-306G>T rs149952976 0.00688
NM_012463.4(ATP6V0A2):c.197-263T>C rs146464642 0.00617
NM_012463.4(ATP6V0A2):c.*191T>C rs150408179 0.00595
NM_012463.4(ATP6V0A2):c.1936-147C>T rs80175450 0.00575
NM_012463.4(ATP6V0A2):c.826-217T>C rs74713525 0.00575
NM_012463.4(ATP6V0A2):c.2055+166C>G rs111986323 0.00524
NM_012463.4(ATP6V0A2):c.433-60C>T rs139844022 0.00461
NM_012463.4(ATP6V0A2):c.1039-127A>C rs560210864 0.00436
NM_012463.4(ATP6V0A2):c.197-283A>G rs149902738 0.00414
NM_012463.4(ATP6V0A2):c.732-102G>A rs115568485 0.00407
NM_012463.4(ATP6V0A2):c.1039-303C>T rs113438472 0.00383
NM_012463.4(ATP6V0A2):c.117+81G>T rs571330835 0.00379
NM_012463.4(ATP6V0A2):c.2175+267G>A rs189134797 0.00344
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143 0.00258
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791 0.00148
NM_012463.4(ATP6V0A2):c.1039-12T>C rs190537134 0.00121
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296 0.00088
NM_012463.4(ATP6V0A2):c.1189+12G>T rs377235629 0.00082
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=) rs142454880 0.00068
NM_012463.4(ATP6V0A2):c.1327-16G>A rs149092701 0.00042
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) rs75746974 0.00039
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=) rs146156426 0.00034
NM_012463.4(ATP6V0A2):c.1936-7C>T rs370135665 0.00028
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) rs143802431 0.00025
NM_012463.4(ATP6V0A2):c.1128C>T (p.Thr376=) rs138172178 0.00021
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=) rs367950442 0.00021
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=) rs140835376 0.00021
NM_012463.4(ATP6V0A2):c.1039-13G>T rs375793162 0.00019
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=) rs2271659 0.00014
NM_012463.4(ATP6V0A2):c.118-7_118-3del rs777322469 0.00013
NM_012463.4(ATP6V0A2):c.2340C>T (p.Arg780=) rs201694504 0.00011
NM_012463.4(ATP6V0A2):c.840C>A (p.Thr280=) rs139680786 0.00010
NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=) rs182439983 0.00009
NM_012463.4(ATP6V0A2):c.2308C>T (p.Leu770=) rs149439834 0.00008
NM_012463.4(ATP6V0A2):c.2367A>G (p.Leu789=) rs142041624 0.00007
NM_012463.4(ATP6V0A2):c.768C>T (p.Ala256=) rs373419502 0.00005
NM_012463.4(ATP6V0A2):c.432+12C>T rs535259667 0.00004
NM_012463.4(ATP6V0A2):c.1194C>T (p.Leu398=) rs775345155 0.00003
NM_012463.4(ATP6V0A2):c.1971A>G (p.Ala657=) rs149123235 0.00003
NM_012463.4(ATP6V0A2):c.521+14C>T rs747194853 0.00003
NM_012463.4(ATP6V0A2):c.1485C>T (p.Pro495=) rs759980365 0.00002
NM_012463.4(ATP6V0A2):c.2166G>A (p.Ala722=) rs753589480 0.00002
NM_012463.4(ATP6V0A2):c.2244C>A (p.Ser748=) rs759226841 0.00002
NM_012463.4(ATP6V0A2):c.521+17G>A rs192339944 0.00002
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=) rs367873118 0.00002
NM_012463.4(ATP6V0A2):c.1215G>A (p.Pro405=) rs1171365721 0.00001
NM_012463.4(ATP6V0A2):c.1452C>T (p.Asn484=) rs567406924 0.00001
NM_012463.4(ATP6V0A2):c.1724+20T>A rs778282853 0.00001
NM_012463.4(ATP6V0A2):c.2294-4G>A rs551697992 0.00001
NM_012463.4(ATP6V0A2):c.2469A>G (p.Val823=) rs775830030 0.00001
NM_012463.4(ATP6V0A2):c.795G>A (p.Gly265=) rs754399086 0.00001
NM_012463.4(ATP6V0A2):c.853A>C (p.Arg285=) rs776563027 0.00001
NC_000012.12:g.123712055AC[6] rs1188328972
NC_000012.12:g.123712055AC[8] rs1188328972
NC_000012.12:g.123712057AC[11] rs761076797
NC_000012.12:g.123712057AC[7] rs761076797
NC_000012.12:g.123712061AC[5] rs1344327382
NC_000012.12:g.123712061AC[6] rs1344327382
NC_000012.12:g.123712061AC[7] rs1344327382
NC_000012.12:g.123712077_123712083AC[3]ATACACACA[1] rs1555295148
NC_000012.12:g.123712077_123712084AC[5]ATACACACAC[1] rs1246294062
NC_000012.12:g.123712077_123712084AC[7]ATACACACAC[1] rs1246294062
NM_012463.4(ATP6V0A2):c.1039-110A>C rs113442258
NM_012463.4(ATP6V0A2):c.196+15T>G rs1404046246
NM_012463.4(ATP6V0A2):c.2056-14C>G rs375232199
NM_012463.4(ATP6V0A2):c.2148T>C (p.Asp716=) rs962207534
NM_012463.4(ATP6V0A2):c.2466-3dup rs370511382
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.295-112del rs796749108
NM_012463.4(ATP6V0A2):c.295-17C>A rs1555296412
NM_012463.4(ATP6V0A2):c.432+251T>C rs192821655
NM_012463.4(ATP6V0A2):c.521+14C>G rs747194853
NM_012463.4(ATP6V0A2):c.522-13del rs140638516
NM_012463.4(ATP6V0A2):c.732-23T>G rs2271660
NM_012463.4(ATP6V0A2):c.732-3C>T rs1371899202
NM_012463.4(ATP6V0A2):c.826-89GA[3] rs146025405
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=) rs139680786

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.