ClinVar Miner

List of variants in gene ATP13A2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val) rs149372969 0.00081
NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser) rs547860186 0.00072
NM_022089.4(ATP13A2):c.2972G>A (p.Arg991Gln) rs145548316 0.00050
NM_022089.4(ATP13A2):c.2020G>A (p.Ala674Thr) rs143834546 0.00037
NM_022089.4(ATP13A2):c.1171G>A (p.Val391Ile) rs113105667 0.00012
NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn) rs369863178 0.00012
NM_022089.4(ATP13A2):c.2771G>A (p.Arg924His) rs564643512 0.00009
NM_022089.4(ATP13A2):c.35C>T (p.Thr12Met) rs151117874 0.00009
NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu) rs566918264 0.00008
NM_022089.4(ATP13A2):c.197G>A (p.Arg66His) rs367745335 0.00007
NM_022089.4(ATP13A2):c.1064C>T (p.Thr355Met) rs555691965 0.00006
NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp) rs768796427 0.00006
NM_022089.4(ATP13A2):c.3257C>T (p.Ala1086Val) rs370677966 0.00006
NM_022089.4(ATP13A2):c.461C>T (p.Ala154Val) rs376169767 0.00006
NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr) rs377186549 0.00005
NM_022089.4(ATP13A2):c.157G>A (p.Val53Met) rs142699829 0.00005
NM_022089.4(ATP13A2):c.2260C>G (p.Leu754Val) rs139909551 0.00005
NM_022089.4(ATP13A2):c.1630C>T (p.Arg544Cys) rs893985839 0.00004
NM_022089.4(ATP13A2):c.1766C>T (p.Pro589Leu) rs758992649 0.00004
NM_022089.4(ATP13A2):c.2412G>A (p.Lys804=) rs978493820 0.00004
NM_022089.4(ATP13A2):c.2828C>T (p.Thr943Ile) rs1401431520 0.00004
NM_022089.4(ATP13A2):c.374C>G (p.Ala125Gly) rs1050244144 0.00004
NM_022089.4(ATP13A2):c.394G>A (p.Ala132Thr) rs200934541 0.00004
NM_022089.4(ATP13A2):c.407C>T (p.Ala136Val) rs562519835 0.00004
NM_022089.4(ATP13A2):c.1634G>A (p.Arg545His) rs200337290 0.00003
NM_022089.4(ATP13A2):c.1688G>A (p.Arg563Gln) rs541385523 0.00003
NM_022089.4(ATP13A2):c.265G>A (p.Val89Ile) rs534590083 0.00003
NM_022089.4(ATP13A2):c.3059A>G (p.Tyr1020Cys) rs372182128 0.00003
NM_022089.4(ATP13A2):c.3501C>T (p.Ala1167=) rs781135190 0.00003
NM_022089.4(ATP13A2):c.431A>T (p.Asp144Val) rs145031260 0.00003
NM_022089.4(ATP13A2):c.1189C>T (p.Arg397Cys) rs748309608 0.00002
NM_022089.4(ATP13A2):c.1399G>A (p.Val467Met) rs760443267 0.00002
NM_022089.4(ATP13A2):c.1667C>T (p.Ala556Val) rs760021599 0.00002
NM_022089.4(ATP13A2):c.1900C>G (p.Leu634Val) rs543531903 0.00002
NM_022089.4(ATP13A2):c.220C>T (p.Arg74Trp) rs753087058 0.00002
NM_022089.4(ATP13A2):c.2797G>A (p.Val933Ile) rs370356637 0.00002
NM_022089.4(ATP13A2):c.3218G>A (p.Arg1073Gln) rs747907490 0.00002
NM_022089.4(ATP13A2):c.595C>T (p.Arg199Cys) rs754074592 0.00002
NM_022089.4(ATP13A2):c.878T>C (p.Met293Thr) rs772414750 0.00002
NM_022089.4(ATP13A2):c.1004C>T (p.Ala335Val) rs756767909 0.00001
NM_022089.4(ATP13A2):c.1169A>C (p.His390Pro) rs376004873 0.00001
NM_022089.4(ATP13A2):c.1420C>G (p.Pro474Ala) rs530658980 0.00001
NM_022089.4(ATP13A2):c.146G>T (p.Gly49Val) rs372254666 0.00001
NM_022089.4(ATP13A2):c.1544C>T (p.Thr515Met) rs984178348 0.00001
NM_022089.4(ATP13A2):c.1819C>T (p.Leu607Phe) rs772266257 0.00001
NM_022089.4(ATP13A2):c.2995G>A (p.Val999Met) rs764162255 0.00001
NM_022089.4(ATP13A2):c.3145G>A (p.Val1049Met) rs750963832 0.00001
NM_022089.4(ATP13A2):c.3356T>G (p.Leu1119Arg) rs375453342 0.00001
NM_022089.4(ATP13A2):c.3538A>T (p.Arg1180Trp) rs774920921 0.00001
NM_022089.4(ATP13A2):c.59C>T (p.Thr20Met) rs773699589 0.00001
NM_022089.4(ATP13A2):c.*138C>T
NM_022089.4(ATP13A2):c.*145C>T
NM_022089.4(ATP13A2):c.1003G>T (p.Ala335Ser) rs778596653
NM_022089.4(ATP13A2):c.1044G>C (p.Glu348Asp)
NM_022089.4(ATP13A2):c.1190G>A (p.Arg397His)
NM_022089.4(ATP13A2):c.1195+5G>A
NM_022089.4(ATP13A2):c.1236G>T (p.Leu412Phe)
NM_022089.4(ATP13A2):c.1346G>A (p.Arg449Gln)
NM_022089.4(ATP13A2):c.1423G>A (p.Ala475Thr)
NM_022089.4(ATP13A2):c.1439G>A (p.Cys480Tyr)
NM_022089.4(ATP13A2):c.1499G>A (p.Arg500His)
NM_022089.4(ATP13A2):c.1564G>A (p.Gly522Ser)
NM_022089.4(ATP13A2):c.1573G>A (p.Val525Met)
NM_022089.4(ATP13A2):c.1789A>T (p.Thr597Ser)
NM_022089.4(ATP13A2):c.1831C>G (p.Gln611Glu)
NM_022089.4(ATP13A2):c.1906C>T (p.Arg636Cys)
NM_022089.4(ATP13A2):c.1970C>T (p.Pro657Leu)
NM_022089.4(ATP13A2):c.2039A>G (p.Tyr680Cys) rs1557681234
NM_022089.4(ATP13A2):c.2123C>T (p.Thr708Met)
NM_022089.4(ATP13A2):c.2170A>C (p.Met724Leu)
NM_022089.4(ATP13A2):c.2189C>T (p.Pro730Leu)
NM_022089.4(ATP13A2):c.2251+5A>G
NM_022089.4(ATP13A2):c.2252-11_2252-4delinsTGTCTG
NM_022089.4(ATP13A2):c.2416C>A (p.Pro806Thr)
NM_022089.4(ATP13A2):c.2451C>G (p.Asp817Glu)
NM_022089.4(ATP13A2):c.2530-3C>T
NM_022089.4(ATP13A2):c.2563G>A (p.Ala855Thr) rs886045579
NM_022089.4(ATP13A2):c.2594A>G (p.Glu865Gly)
NM_022089.4(ATP13A2):c.2927T>G (p.Val976Gly) rs776148733
NM_022089.4(ATP13A2):c.2966G>A (p.Arg989Gln)
NM_022089.4(ATP13A2):c.2979_2993del (p.Gly994_Ser998del)
NM_022089.4(ATP13A2):c.3043G>A (p.Val1015Met)
NM_022089.4(ATP13A2):c.3053G>C (p.Gly1018Ala)
NM_022089.4(ATP13A2):c.3127C>G (p.Pro1043Ala)
NM_022089.4(ATP13A2):c.3206C>A (p.Ala1069Glu) rs764988645
NM_022089.4(ATP13A2):c.3206C>G (p.Ala1069Gly)
NM_022089.4(ATP13A2):c.3233A>G (p.Asn1078Ser)
NM_022089.4(ATP13A2):c.3269C>T (p.Ser1090Phe)
NM_022089.4(ATP13A2):c.3301C>T (p.Leu1101Phe) rs886045577
NM_022089.4(ATP13A2):c.3428C>A (p.Pro1143His)
NM_022089.4(ATP13A2):c.3449G>A (p.Arg1150Gln)
NM_022089.4(ATP13A2):c.3490C>T (p.Arg1164Ter)
NM_022089.4(ATP13A2):c.3527C>G (p.Ala1176Gly)
NM_022089.4(ATP13A2):c.373G>C (p.Ala125Pro)
NM_022089.4(ATP13A2):c.477+5G>T
NM_022089.4(ATP13A2):c.47A>T (p.Tyr16Phe)
NM_022089.4(ATP13A2):c.585C>G (p.Asp195Glu)
NM_022089.4(ATP13A2):c.602G>A (p.Arg201His)
NM_022089.4(ATP13A2):c.629T>A (p.Met210Lys)
NM_022089.4(ATP13A2):c.653C>A (p.Pro218His)
NM_022089.4(ATP13A2):c.671C>T (p.Pro224Leu)
NM_022089.4(ATP13A2):c.761A>G (p.Asp254Gly) rs1557704196
NM_022089.4(ATP13A2):c.762C>G (p.Asp254Glu)
NM_022089.4(ATP13A2):c.781C>G (p.Leu261Val)
NM_022089.4(ATP13A2):c.787A>G (p.Ile263Val) rs911196210
NM_022089.4(ATP13A2):c.809C>G (p.Ser270Cys) rs1557703957
NM_022089.4(ATP13A2):c.840G>T (p.Lys280Asn) rs1326739914
NM_022089.4(ATP13A2):c.881G>C (p.Arg294Pro)
NM_022089.4(ATP13A2):c.902G>C (p.Gly301Ala) rs1044203058
NM_022089.4(ATP13A2):c.911A>G (p.Glu304Gly)

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