ClinVar Miner

List of variants in gene ATP13A2 reported by GeneDx

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Gene type:
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Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.1195+66A>G rs9435736 0.80687
NM_022089.4(ATP13A2):c.705+228A>G rs2871776 0.56136
NM_022089.4(ATP13A2):c.1750-211G>A rs4920608 0.55133
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=) rs2076603 0.55111
NM_022089.4(ATP13A2):c.289-109T>C rs3738814 0.51613
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=) rs761421 0.41522
NM_022089.4(ATP13A2):c.3236-30C>T rs2076605 0.41484
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=) rs9435659 0.40884
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=) rs3170740 0.40860
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=) rs9435662 0.40757
NM_022089.4(ATP13A2):c.2860-309T>C rs9435660 0.23880
NM_022089.4(ATP13A2):c.3084-3C>T rs7531163 0.23688
NM_022089.4(ATP13A2):c.2610-273A>G rs7553340 0.21865
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=) rs3738815 0.20463
NM_022089.4(ATP13A2):c.2251+164A>G rs2076604 0.20460
NM_022089.4(ATP13A2):c.1196-207T>A rs2076602 0.20423
NM_022089.4(ATP13A2):c.907+36T>G rs764686393 0.13592
NM_022089.4(ATP13A2):c.1195+247C>T rs56274609 0.09123
NM_022089.4(ATP13A2):c.1040-308A>G rs116488926 0.05487
NM_022089.4(ATP13A2):c.1195+82G>A rs56068717 0.04223
NM_022089.4(ATP13A2):c.*124C>T rs15786 0.04122
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=) rs56290406 0.04044
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202 0.03793
NM_022089.4(ATP13A2):c.1195+199C>G rs116058417 0.02292
NM_022089.4(ATP13A2):c.3235+86C>T rs9435735 0.02078
NM_022089.4(ATP13A2):c.11-227G>A rs181809608 0.01337
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=) rs61739752 0.01259
NM_022089.4(ATP13A2):c.347+31G>A rs41273157 0.01231
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_022089.4(ATP13A2):c.705+214T>C rs182843634 0.01164
NM_022089.4(ATP13A2):c.2609+118A>G rs140118225 0.01140
NM_022089.4(ATP13A2):c.11-29C>T rs55842702 0.01046
NM_022089.4(ATP13A2):c.2763-16G>A rs114407349 0.01044
NM_022089.4(ATP13A2):c.2610-120G>A rs114533414 0.01033
NM_022089.4(ATP13A2):c.2859+250C>A rs116530655 0.01023
NM_022089.4(ATP13A2):c.2860-222C>T rs147104822 0.01023
NM_022089.4(ATP13A2):c.2762+29G>A rs141447403 0.01020
NM_022089.4(ATP13A2):c.2762+31C>T rs148336170 0.01020
NM_022089.4(ATP13A2):c.2251+62G>A rs138294777 0.01002
NM_022089.4(ATP13A2):c.1196-79C>T rs183590584 0.00944
NM_022089.4(ATP13A2):c.907+29G>T rs140087527 0.00905
NM_022089.4(ATP13A2):c.10+276G>A rs116110826 0.00873
NC_000001.11:g.16985747C>T rs114057553 0.00722
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser) rs56379718 0.00681
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674 0.00646
NM_022089.4(ATP13A2):c.1195+10G>A rs55689004 0.00585
NM_022089.4(ATP13A2):c.2251+45C>T rs185739088 0.00550
NM_022089.4(ATP13A2):c.705+128C>T rs74058368 0.00542
NM_022089.4(ATP13A2):c.2610-154T>C rs142679886 0.00540
NM_022089.4(ATP13A2):c.*140C>G rs557545457 0.00509
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=) rs55979991 0.00505
NM_022089.4(ATP13A2):c.106-45C>T rs150294350 0.00488
NM_022089.4(ATP13A2):c.2093T>C (p.Val698Ala) rs61734958 0.00485
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_022089.4(ATP13A2):c.348-91C>A rs142622762 0.00436
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=) rs79724242 0.00341
NM_022089.4(ATP13A2):c.1846-28C>T rs56214748 0.00310
NM_022089.4(ATP13A2):c.2126+56C>T rs57809155 0.00283
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=) rs115985012 0.00228
NM_022089.4(ATP13A2):c.1195+9C>T rs117758987 0.00227
NM_022089.4(ATP13A2):c.*130C>T rs189334432 0.00217
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=) rs140048110 0.00195
NM_022089.4(ATP13A2):c.2859+33G>A rs149146335 0.00184
NM_022089.4(ATP13A2):c.907+50G>A rs56300634 0.00184
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304 0.00127
NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln) rs137955309 0.00108
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) rs55708915 0.00091
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=) rs148391179 0.00091
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val) rs149372969 0.00081
NM_022089.4(ATP13A2):c.106-8G>A rs200587951 0.00075
NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser) rs547860186 0.00072
NM_022089.4(ATP13A2):c.3405+9C>T rs374766933 0.00051
NM_022089.4(ATP13A2):c.2331C>T (p.His777=) rs144708504 0.00050
NM_022089.4(ATP13A2):c.2972G>A (p.Arg991Gln) rs145548316 0.00050
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=) rs184878897 0.00039
NM_022089.4(ATP13A2):c.2020G>A (p.Ala674Thr) rs143834546 0.00037
NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=) rs148026506 0.00035
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=) rs200916673 0.00034
NM_022089.4(ATP13A2):c.2263C>G (p.Gln755Glu) rs200924194 0.00034
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu) rs201756175 0.00034
NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=) rs148970081 0.00031
NM_022089.4(ATP13A2):c.2619G>C (p.Val873=) rs199994961 0.00030
NM_022089.4(ATP13A2):c.2404G>A (p.Gly802Ser) rs752487771 0.00025
NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=) rs377703085 0.00024
NM_022089.4(ATP13A2):c.2951C>T (p.Ala984Val) rs375552345 0.00013
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.255C>T (p.Ala85=) rs369906056 0.00009
NM_022089.4(ATP13A2):c.3518C>T (p.Pro1173Leu) rs372995036 0.00009
NM_022089.4(ATP13A2):c.477+2T>G rs758014228 0.00009
NM_022089.4(ATP13A2):c.880C>T (p.Arg294Trp) rs144898239 0.00009
NM_022089.4(ATP13A2):c.1658G>A (p.Arg553Gln) rs376011760 0.00007
NM_022089.4(ATP13A2):c.197G>A (p.Arg66His) rs367745335 0.00007
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr) rs199661793 0.00006
NM_022089.4(ATP13A2):c.1766C>T (p.Pro589Leu) rs758992649 0.00004
NM_022089.4(ATP13A2):c.1781C>T (p.Ala594Val) rs372058266 0.00004
NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile) rs747785443 0.00004
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met) rs768674400 0.00004
NM_022089.4(ATP13A2):c.431A>T (p.Asp144Val) rs145031260 0.00003
NM_022089.4(ATP13A2):c.1112G>A (p.Arg371Gln) rs779347442 0.00002
NM_022089.4(ATP13A2):c.196C>T (p.Arg66Cys) rs768327980 0.00002
NM_022089.4(ATP13A2):c.2285G>A (p.Arg762Gln) rs766899425 0.00002
NM_022089.4(ATP13A2):c.833C>A (p.Thr278Asn) rs773768330 0.00002
NM_022089.4(ATP13A2):c.1109G>A (p.Arg370Gln) rs369738172 0.00001
NM_022089.4(ATP13A2):c.1157A>G (p.Tyr386Cys) rs762628723 0.00001
NM_022089.4(ATP13A2):c.1420C>G (p.Pro474Ala) rs530658980 0.00001
NM_022089.4(ATP13A2):c.1544C>T (p.Thr515Met) rs984178348 0.00001
NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile) rs368423685 0.00001
NM_022089.4(ATP13A2):c.1876C>T (p.His626Tyr) rs778267471 0.00001
NM_022089.4(ATP13A2):c.229C>T (p.Leu77Phe) rs763004392 0.00001
NM_022089.4(ATP13A2):c.2939G>A (p.Arg980His) rs150748722 0.00001
NM_022089.4(ATP13A2):c.1040-242C>G rs9435664
NM_022089.4(ATP13A2):c.1040-249A>C rs112195933
NM_022089.4(ATP13A2):c.112A>G (p.Ser38Gly) rs780883238
NM_022089.4(ATP13A2):c.1195+143dup rs55682704
NM_022089.4(ATP13A2):c.1239C>A (p.His413Gln) rs1198645332
NM_022089.4(ATP13A2):c.1306+42del rs140436868
NM_022089.4(ATP13A2):c.1317C>T (p.Gly439=) rs775625778
NM_022089.4(ATP13A2):c.1750-68T>C rs192446884
NM_022089.4(ATP13A2):c.2005+6G>A rs2100778867
NM_022089.4(ATP13A2):c.212G>A (p.Trp71Ter) rs373607247
NM_022089.4(ATP13A2):c.2412+45C>A rs77880760
NM_022089.4(ATP13A2):c.2610-251A>G rs146038633
NM_022089.4(ATP13A2):c.2965C>T (p.Arg989Trp)
NM_022089.4(ATP13A2):c.3055G>C (p.Gly1019Arg)
NM_022089.4(ATP13A2):c.3235+44_3235+55del rs143483351
NM_022089.4(ATP13A2):c.3277G>C (p.Val1093Leu) rs1057522952
NM_022089.4(ATP13A2):c.347+73C>G rs41273155

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