ClinVar Miner

List of variants in gene ATP6V1A studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 313
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001690.4(ATP6V1A):c.426+69A>G rs2305546 0.37081
NM_001690.4(ATP6V1A):c.83-164A>G rs2305545 0.36094
NM_001690.4(ATP6V1A):c.880-244T>C rs6792447 0.34951
NM_001690.4(ATP6V1A):c.-13-81A>G rs12636577 0.33639
NM_001690.4(ATP6V1A):c.1227-210A>G rs116411090 0.01516
NM_001690.4(ATP6V1A):c.*4C>T rs80048233 0.00825
NM_001690.4(ATP6V1A):c.880-16T>C rs142893861 0.00473
NM_001690.4(ATP6V1A):c.879+27C>G rs146162142 0.00470
NM_001690.4(ATP6V1A):c.1227-37del rs3217358 0.00464
NM_001690.4(ATP6V1A):c.1470A>G (p.Ala490=) rs112729133 0.00391
NM_001690.4(ATP6V1A):c.1791C>A (p.Ile597=) rs149804500 0.00017
NM_001690.4(ATP6V1A):c.1688A>G (p.Asn563Ser) rs375296671 0.00012
NM_001690.4(ATP6V1A):c.596T>C (p.Val199Ala) rs138543954 0.00008
NM_001690.4(ATP6V1A):c.1284C>T (p.Ile428=) rs370231379 0.00004
NM_001690.4(ATP6V1A):c.1416C>T (p.Phe472=) rs753550267 0.00004
NM_001690.4(ATP6V1A):c.318G>A (p.Leu106=) rs753216033 0.00004
NM_001690.4(ATP6V1A):c.734C>G (p.Thr245Ser) rs144476994 0.00004
NM_001690.4(ATP6V1A):c.1152G>A (p.Ser384=) rs778910556 0.00002
NM_001690.4(ATP6V1A):c.247G>A (p.Gly83Ser) rs778615930 0.00002
NM_001690.4(ATP6V1A):c.434G>C (p.Ser145Thr) rs558250693 0.00002
NM_001690.4(ATP6V1A):c.497T>G (p.Ile166Ser) rs754805158 0.00002
NM_001690.4(ATP6V1A):c.590A>G (p.Glu197Gly) rs747456726 0.00002
NM_001690.4(ATP6V1A):c.716+14G>A rs778994336 0.00002
NM_001690.4(ATP6V1A):c.1164A>C (p.Arg388=) rs373543610 0.00001
NM_001690.4(ATP6V1A):c.1227-11T>C rs780039870 0.00001
NM_001690.4(ATP6V1A):c.1449G>T (p.Leu483=) rs780517212 0.00001
NM_001690.4(ATP6V1A):c.1495-9C>T rs755526311 0.00001
NM_001690.4(ATP6V1A):c.1599A>C (p.Pro533=) rs753274046 0.00001
NM_001690.4(ATP6V1A):c.1637C>T (p.Ala546Val) rs571817807 0.00001
NM_001690.4(ATP6V1A):c.168A>G (p.Arg56=) rs746606076 0.00001
NM_001690.4(ATP6V1A):c.1704C>T (p.Ser568=) rs757506848 0.00001
NM_001690.4(ATP6V1A):c.1764T>C (p.Asp588=) rs1185117698 0.00001
NM_001690.4(ATP6V1A):c.1797C>T (p.Ser599=) rs145737238 0.00001
NM_001690.4(ATP6V1A):c.29T>G (p.Leu10Arg) rs781640990 0.00001
NM_001690.4(ATP6V1A):c.435T>A (p.Ser145Arg) rs1286320220 0.00001
NM_001690.4(ATP6V1A):c.565-12G>A rs749547362 0.00001
NM_001690.4(ATP6V1A):c.565-4A>G rs1360931014 0.00001
NM_001690.4(ATP6V1A):c.88A>G (p.Thr30Ala) rs760371089 0.00001
NM_001690.4(ATP6V1A):c.894T>C (p.Val298=) rs781563251 0.00001
NM_001690.4(ATP6V1A):c.942T>C (p.Asn314=) rs754685315 0.00001
NC_000003.11:g.(?_113505059)_(113507742_?)del
NM_001690.4(ATP6V1A):c.-13-202C>G rs12631232
NM_001690.4(ATP6V1A):c.100A>G (p.Met34Val)
NM_001690.4(ATP6V1A):c.1012C>T (p.Arg338Cys) rs1060505036
NM_001690.4(ATP6V1A):c.1015G>T (p.Asp339Tyr)
NM_001690.4(ATP6V1A):c.1025A>G (p.Tyr342Cys)
NM_001690.4(ATP6V1A):c.104C>T (p.Ala35Val)
NM_001690.4(ATP6V1A):c.105G>A (p.Ala35=) rs141344475
NM_001690.4(ATP6V1A):c.1075A>G (p.Arg359Gly) rs2108038030
NM_001690.4(ATP6V1A):c.1087G>C (p.Gly363Arg)
NM_001690.4(ATP6V1A):c.1102A>T (p.Met368Leu)
NM_001690.4(ATP6V1A):c.1111+11G>T
NM_001690.4(ATP6V1A):c.1111+13A>G
NM_001690.4(ATP6V1A):c.1111+18T>G
NM_001690.4(ATP6V1A):c.1111+22_1111+24del rs748283732
NM_001690.4(ATP6V1A):c.1111+9G>A
NM_001690.4(ATP6V1A):c.1113T>G (p.Asp371Glu)
NM_001690.4(ATP6V1A):c.1116T>C (p.Ser372=)
NM_001690.4(ATP6V1A):c.1125A>G (p.Pro375=)
NM_001690.4(ATP6V1A):c.1128C>G (p.Ala376=)
NM_001690.4(ATP6V1A):c.1162C>T (p.Arg388Ter)
NM_001690.4(ATP6V1A):c.1166C>T (p.Ala389Val)
NM_001690.4(ATP6V1A):c.1182T>C (p.Cys394=)
NM_001690.4(ATP6V1A):c.1194T>C (p.Pro398=)
NM_001690.4(ATP6V1A):c.1206G>A (p.Gly402=)
NM_001690.4(ATP6V1A):c.1209T>C (p.Ser403=)
NM_001690.4(ATP6V1A):c.1218T>C (p.Ile406=)
NM_001690.4(ATP6V1A):c.1226+12C>T
NM_001690.4(ATP6V1A):c.1227-17del
NM_001690.4(ATP6V1A):c.1227-18T>C
NM_001690.4(ATP6V1A):c.1227-19A>G
NM_001690.4(ATP6V1A):c.1227-20C>T
NM_001690.4(ATP6V1A):c.1227-8A>T
NM_001690.4(ATP6V1A):c.1227-9T>A
NM_001690.4(ATP6V1A):c.1227-9del
NM_001690.4(ATP6V1A):c.1227-9dup
NM_001690.4(ATP6V1A):c.1258C>T (p.Pro420Ser)
NM_001690.4(ATP6V1A):c.1260A>G (p.Pro420=)
NM_001690.4(ATP6V1A):c.126G>A (p.Leu42=)
NM_001690.4(ATP6V1A):c.1270G>A (p.Ala424Thr)
NM_001690.4(ATP6V1A):c.1287T>C (p.Val429=)
NM_001690.4(ATP6V1A):c.1290+6T>C
NM_001690.4(ATP6V1A):c.1290+9_1290+10dup rs776382558
NM_001690.4(ATP6V1A):c.1291-13T>G
NM_001690.4(ATP6V1A):c.1291-14_1291-13insG
NM_001690.4(ATP6V1A):c.1291-15G>T
NM_001690.4(ATP6V1A):c.1291-7T>A
NM_001690.4(ATP6V1A):c.1291-7dup rs538710134
NM_001690.4(ATP6V1A):c.1296C>T (p.Phe432=)
NM_001690.4(ATP6V1A):c.1302C>T (p.Gly434=)
NM_001690.4(ATP6V1A):c.1309A>G (p.Lys437Glu)
NM_001690.4(ATP6V1A):c.1320T>C (p.Ala440=)
NM_001690.4(ATP6V1A):c.1326dup (p.Lys443Ter) rs2108040657
NM_001690.4(ATP6V1A):c.1329G>A (p.Lys443=)
NM_001690.4(ATP6V1A):c.1335C>T (p.Phe445=)
NM_001690.4(ATP6V1A):c.1337C>T (p.Pro446Leu) rs2108040667
NM_001690.4(ATP6V1A):c.1347T>C (p.Asn449=)
NM_001690.4(ATP6V1A):c.1368G>C (p.Lys456Asn) rs2108040687
NM_001690.4(ATP6V1A):c.1375C>T (p.Arg459Cys)
NM_001690.4(ATP6V1A):c.1376G>A (p.Arg459His)
NM_001690.4(ATP6V1A):c.1379C>A (p.Ala460Asp) rs2108040702
NM_001690.4(ATP6V1A):c.1393T>C (p.Tyr465His)
NM_001690.4(ATP6V1A):c.1394A>G (p.Tyr465Cys)
NM_001690.4(ATP6V1A):c.1401A>G (p.Lys467=)
NM_001690.4(ATP6V1A):c.1402C>T (p.His468Tyr)
NM_001690.4(ATP6V1A):c.1417G>A (p.Val473Ile)
NM_001690.4(ATP6V1A):c.141C>T (p.His47=)
NM_001690.4(ATP6V1A):c.1430C>T (p.Thr477Met)
NM_001690.4(ATP6V1A):c.1431G>A (p.Thr477=)
NM_001690.4(ATP6V1A):c.1446T>C (p.Ile482=)
NM_001690.4(ATP6V1A):c.145G>A (p.Glu49Lys)
NM_001690.4(ATP6V1A):c.1461A>C (p.Glu487Asp)
NM_001690.4(ATP6V1A):c.1475T>C (p.Ile492Thr)
NM_001690.4(ATP6V1A):c.1481A>T (p.Gln494Leu)
NM_001690.4(ATP6V1A):c.1494+18A>T
NM_001690.4(ATP6V1A):c.1494+5_1494+12dup
NM_001690.4(ATP6V1A):c.1495-14T>G
NM_001690.4(ATP6V1A):c.1495-15C>G
NM_001690.4(ATP6V1A):c.1495-7C>T
NM_001690.4(ATP6V1A):c.1534G>A (p.Ala512Thr)
NM_001690.4(ATP6V1A):c.1545C>A (p.Ile515=)
NM_001690.4(ATP6V1A):c.1546A>G (p.Lys516Glu)
NM_001690.4(ATP6V1A):c.1551T>C (p.Asp517=)
NM_001690.4(ATP6V1A):c.1560A>G (p.Leu520=)
NM_001690.4(ATP6V1A):c.1568A>G (p.Asn523Ser)
NM_001690.4(ATP6V1A):c.1572A>T (p.Gly524=)
NM_001690.4(ATP6V1A):c.157G>A (p.Glu53Lys)
NM_001690.4(ATP6V1A):c.1589+10A>G
NM_001690.4(ATP6V1A):c.1589+20T>C rs13321446
NM_001690.4(ATP6V1A):c.1589+20T>G rs13321446
NM_001690.4(ATP6V1A):c.1590-14T>G
NM_001690.4(ATP6V1A):c.1590-15C>T
NM_001690.4(ATP6V1A):c.1603T>C (p.Tyr535His)
NM_001690.4(ATP6V1A):c.1611del (p.Thr537_Val538insTer)
NM_001690.4(ATP6V1A):c.1616G>A (p.Gly539Glu)
NM_001690.4(ATP6V1A):c.1617G>T (p.Gly539=)
NM_001690.4(ATP6V1A):c.1618A>T (p.Met540Leu)
NM_001690.4(ATP6V1A):c.1633A>G (p.Ile545Val)
NM_001690.4(ATP6V1A):c.1638A>G (p.Ala546=)
NM_001690.4(ATP6V1A):c.1651G>A (p.Ala551Thr)
NM_001690.4(ATP6V1A):c.1655G>A (p.Arg552His)
NM_001690.4(ATP6V1A):c.1669A>T (p.Thr557Ser)
NM_001690.4(ATP6V1A):c.1670C>A (p.Thr557Asn)
NM_001690.4(ATP6V1A):c.1705A>G (p.Ile569Val)
NM_001690.4(ATP6V1A):c.1708A>C (p.Ile570Leu)
NM_001690.4(ATP6V1A):c.1712G>A (p.Arg571His)
NM_001690.4(ATP6V1A):c.1716G>A (p.Glu572=) rs1157798681
NM_001690.4(ATP6V1A):c.1727A>G (p.Asp576Gly)
NM_001690.4(ATP6V1A):c.1731C>T (p.Ile577=)
NM_001690.4(ATP6V1A):c.1732C>T (p.Leu578Phe)
NM_001690.4(ATP6V1A):c.1733T>C (p.Leu578Pro)
NM_001690.4(ATP6V1A):c.1736A>G (p.Tyr579Cys)
NM_001690.4(ATP6V1A):c.1744T>A (p.Ser582Thr)
NM_001690.4(ATP6V1A):c.1744del (p.Ser582fs)
NM_001690.4(ATP6V1A):c.1745C>G (p.Ser582Cys)
NM_001690.4(ATP6V1A):c.1747T>C (p.Ser583Pro)
NM_001690.4(ATP6V1A):c.1761+5A>T
NM_001690.4(ATP6V1A):c.1762-6T>C
NM_001690.4(ATP6V1A):c.1767A>G (p.Pro589=)
NM_001690.4(ATP6V1A):c.1769T>A (p.Leu590Gln)
NM_001690.4(ATP6V1A):c.1777G>A (p.Gly593Ser)
NM_001690.4(ATP6V1A):c.1782G>A (p.Glu594=)
NM_001690.4(ATP6V1A):c.1798G>A (p.Asp600Asn)
NM_001690.4(ATP6V1A):c.1809A>G (p.Gln603=)
NM_001690.4(ATP6V1A):c.1810C>T (p.Leu604Phe)
NM_001690.4(ATP6V1A):c.1812T>C (p.Leu604=) rs774413730
NM_001690.4(ATP6V1A):c.1821C>T (p.Asp607=)
NM_001690.4(ATP6V1A):c.1822A>T (p.Met608Leu)
NM_001690.4(ATP6V1A):c.1823T>C (p.Met608Thr)
NM_001690.4(ATP6V1A):c.182T>C (p.Met61Thr)
NM_001690.4(ATP6V1A):c.1833A>C (p.Ala611=)
NM_001690.4(ATP6V1A):c.1838G>A (p.Arg613His)
NM_001690.4(ATP6V1A):c.183G>A (p.Met61Ile)
NM_001690.4(ATP6V1A):c.1840_1841insACCTTGAAGATTAGAA (p.Ser614delinsAsnLeuGluAspTer)
NM_001690.4(ATP6V1A):c.211+14C>G
NM_001690.4(ATP6V1A):c.211+15T>C
NM_001690.4(ATP6V1A):c.212-10C>T
NM_001690.4(ATP6V1A):c.212-13C>T
NM_001690.4(ATP6V1A):c.217G>A (p.Val73Met)
NM_001690.4(ATP6V1A):c.220T>G (p.Ser74Ala)
NM_001690.4(ATP6V1A):c.223G>T (p.Val75Phe)
NM_001690.4(ATP6V1A):c.234T>C (p.Pro78=)
NM_001690.4(ATP6V1A):c.249T>G (p.Gly83=)
NM_001690.4(ATP6V1A):c.253C>A (p.Pro85Thr) rs2108029577
NM_001690.4(ATP6V1A):c.255C>T (p.Pro85=)
NM_001690.4(ATP6V1A):c.258_265delinsGTTTATGCC (p.Ser87fs) rs2108029579
NM_001690.4(ATP6V1A):c.260C>G (p.Ser87Cys)
NM_001690.4(ATP6V1A):c.260_261del (p.Ser87fs)
NM_001690.4(ATP6V1A):c.279C>T (p.Gly93=)
NM_001690.4(ATP6V1A):c.280A>C (p.Ile94Leu)
NM_001690.4(ATP6V1A):c.280A>G (p.Ile94Val)
NM_001690.4(ATP6V1A):c.296T>C (p.Phe99Ser)
NM_001690.4(ATP6V1A):c.30C>T (p.Leu10=)
NM_001690.4(ATP6V1A):c.31G>A (p.Asp11Asn)
NM_001690.4(ATP6V1A):c.31G>C (p.Asp11His)
NM_001690.4(ATP6V1A):c.320C>T (p.Ser107Leu)
NM_001690.4(ATP6V1A):c.321G>A (p.Ser107=)
NM_001690.4(ATP6V1A):c.327C>T (p.Ile109=)
NM_001690.4(ATP6V1A):c.338C>A (p.Thr113Asn)
NM_001690.4(ATP6V1A):c.339C>T (p.Thr113=)
NM_001690.4(ATP6V1A):c.354C>A (p.Ile118=)
NM_001690.4(ATP6V1A):c.369C>T (p.Asn123=)
NM_001690.4(ATP6V1A):c.372G>C (p.Val124=)
NM_001690.4(ATP6V1A):c.374C>G (p.Ser125Cys)
NM_001690.4(ATP6V1A):c.395A>G (p.Lys132Arg)
NM_001690.4(ATP6V1A):c.403T>C (p.Phe135Leu)
NM_001690.4(ATP6V1A):c.410C>T (p.Pro137Leu)
NM_001690.4(ATP6V1A):c.413G>A (p.Cys138Tyr)
NM_001690.4(ATP6V1A):c.416A>G (p.Lys139Arg)
NM_001690.4(ATP6V1A):c.423A>G (p.Leu141=)
NM_001690.4(ATP6V1A):c.424C>T (p.Arg142Trp)
NM_001690.4(ATP6V1A):c.426+12_426+19dup
NM_001690.4(ATP6V1A):c.426+18A>G
NM_001690.4(ATP6V1A):c.426+3A>G
NM_001690.4(ATP6V1A):c.427-11_427-10insA
NM_001690.4(ATP6V1A):c.427-12A>G
NM_001690.4(ATP6V1A):c.427-13C>T rs2108029941
NM_001690.4(ATP6V1A):c.427-9T>G
NM_001690.4(ATP6V1A):c.429T>G (p.Val143=)
NM_001690.4(ATP6V1A):c.435T>C (p.Ser145=)
NM_001690.4(ATP6V1A):c.437A>G (p.His146Arg)
NM_001690.4(ATP6V1A):c.441C>G (p.Ile147Met)
NM_001690.4(ATP6V1A):c.444T>C (p.Thr148=)
NM_001690.4(ATP6V1A):c.447C>T (p.Gly149=)
NM_001690.4(ATP6V1A):c.458A>G (p.Tyr153Cys)
NM_001690.4(ATP6V1A):c.467T>C (p.Val156Ala)
NM_001690.4(ATP6V1A):c.474G>C (p.Glu158Asp)
NM_001690.4(ATP6V1A):c.480G>A (p.Ser160=)
NM_001690.4(ATP6V1A):c.48C>T (p.Ser16=) rs1475123226
NM_001690.4(ATP6V1A):c.493A>G (p.Lys165Glu) rs2108030006
NM_001690.4(ATP6V1A):c.512G>A (p.Arg171Gln)
NM_001690.4(ATP6V1A):c.535A>G (p.Ile179Val)
NM_001690.4(ATP6V1A):c.536T>C (p.Ile179Thr)
NM_001690.4(ATP6V1A):c.546T>C (p.Pro182=)
NM_001690.4(ATP6V1A):c.548G>A (p.Gly183Glu)
NM_001690.4(ATP6V1A):c.551A>C (p.Asn184Thr)
NM_001690.4(ATP6V1A):c.565-161del rs63484660
NM_001690.4(ATP6V1A):c.565-3T>C
NM_001690.4(ATP6V1A):c.565-5T>G
NM_001690.4(ATP6V1A):c.565-7T>G
NM_001690.4(ATP6V1A):c.56G>C (p.Gly19Ala)
NM_001690.4(ATP6V1A):c.56G>T (p.Gly19Val)
NM_001690.4(ATP6V1A):c.574T>A (p.Leu192Met)
NM_001690.4(ATP6V1A):c.574T>G (p.Leu192Val)
NM_001690.4(ATP6V1A):c.584A>G (p.Glu195Gly)
NM_001690.4(ATP6V1A):c.587T>A (p.Phe196Tyr)
NM_001690.4(ATP6V1A):c.592G>A (p.Gly198Ser)
NM_001690.4(ATP6V1A):c.593G>T (p.Gly198Val)
NM_001690.4(ATP6V1A):c.594T>G (p.Gly198=)
NM_001690.4(ATP6V1A):c.594del (p.Gly198_Val199insTer)
NM_001690.4(ATP6V1A):c.605A>G (p.Lys202Arg)
NM_001690.4(ATP6V1A):c.613A>G (p.Met205Val) rs1709039201
NM_001690.4(ATP6V1A):c.625T>C (p.Trp209Arg)
NM_001690.4(ATP6V1A):c.633A>G (p.Val211=)
NM_001690.4(ATP6V1A):c.634C>T (p.Arg212Cys)
NM_001690.4(ATP6V1A):c.644G>C (p.Arg215Pro)
NM_001690.4(ATP6V1A):c.645A>G (p.Arg215=)
NM_001690.4(ATP6V1A):c.656A>C (p.Glu219Ala)
NM_001690.4(ATP6V1A):c.657G>A (p.Glu219=)
NM_001690.4(ATP6V1A):c.65A>G (p.His22Arg)
NM_001690.4(ATP6V1A):c.671ATC[1] (p.His225del)
NM_001690.4(ATP6V1A):c.675T>C (p.His225=) rs2108031405
NM_001690.4(ATP6V1A):c.676C>T (p.Pro226Ser)
NM_001690.4(ATP6V1A):c.682T>C (p.Leu228=)
NM_001690.4(ATP6V1A):c.692A>G (p.Gln231Arg)
NM_001690.4(ATP6V1A):c.695_716+40del
NM_001690.4(ATP6V1A):c.69G>A (p.Gly23=)
NM_001690.4(ATP6V1A):c.701T>G (p.Leu234Arg)
NM_001690.4(ATP6V1A):c.715C>T (p.Pro239Ser) rs2108031423
NM_001690.4(ATP6V1A):c.716+13T>C
NM_001690.4(ATP6V1A):c.716+18C>G
NM_001690.4(ATP6V1A):c.716+1G>T rs755278709
NM_001690.4(ATP6V1A):c.717-10_717-9del
NM_001690.4(ATP6V1A):c.717-5T>C
NM_001690.4(ATP6V1A):c.721G>T (p.Val241Phe)
NM_001690.4(ATP6V1A):c.725A>G (p.Gln242Arg) rs2108033355
NM_001690.4(ATP6V1A):c.734C>A (p.Thr245Asn)
NM_001690.4(ATP6V1A):c.738T>G (p.Thr246=)
NM_001690.4(ATP6V1A):c.761G>A (p.Cys254Tyr)
NM_001690.4(ATP6V1A):c.780A>G (p.Ser260=)
NM_001690.4(ATP6V1A):c.789A>G (p.Leu263=)
NM_001690.4(ATP6V1A):c.792C>T (p.Ser264=)
NM_001690.4(ATP6V1A):c.80C>G (p.Pro27Arg) rs1553709380
NM_001690.4(ATP6V1A):c.82+15A>G
NM_001690.4(ATP6V1A):c.82+8_82+10dup
NM_001690.4(ATP6V1A):c.827G>A (p.Gly276Glu)
NM_001690.4(ATP6V1A):c.83-6C>A
NM_001690.4(ATP6V1A):c.845A>G (p.Asn282Ser)
NM_001690.4(ATP6V1A):c.864C>T (p.Leu288=)
NM_001690.4(ATP6V1A):c.865C>T (p.Arg289Trp)
NM_001690.4(ATP6V1A):c.879+10A>G
NM_001690.4(ATP6V1A):c.879+11dup
NM_001690.4(ATP6V1A):c.879+12G>A
NM_001690.4(ATP6V1A):c.879+9_879+10insG
NM_001690.4(ATP6V1A):c.880-13A>G
NM_001690.4(ATP6V1A):c.880-17A>G
NM_001690.4(ATP6V1A):c.880-18_880-17insCTCCA
NM_001690.4(ATP6V1A):c.880-69dup rs11385012
NM_001690.4(ATP6V1A):c.880-6C>T
NM_001690.4(ATP6V1A):c.89C>T (p.Thr30Ile)
NM_001690.4(ATP6V1A):c.907G>C (p.Glu303Gln)
NM_001690.4(ATP6V1A):c.913A>G (p.Ile305Val)
NM_001690.4(ATP6V1A):c.940A>G (p.Asn314Asp) rs869312870
NM_001690.4(ATP6V1A):c.954G>A (p.Met318Ile)
NM_001690.4(ATP6V1A):c.955C>T (p.Pro319Ser) rs2108034196
NM_001690.4(ATP6V1A):c.957T>G (p.Pro319=)
NM_001690.4(ATP6V1A):c.979A>G (p.Ile327Val)
NM_001690.4(ATP6V1A):c.981T>C (p.Ile327=)
NM_001690.4(ATP6V1A):c.988+201C>G rs9863050
NM_001690.4(ATP6V1A):c.988+9A>G
NM_001690.4(ATP6V1A):c.989-15T>A
NM_001690.4(ATP6V1A):c.989-3T>C
NM_001690.4(ATP6V1A):c.999G>A (p.Leu333=)

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.