ClinVar Miner

List of variants in gene ATP13A2 reported as likely benign for not provided

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Gene type:
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Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.3083+24C>T rs55885047 0.02459
NM_022089.4(ATP13A2):c.3235+17G>A rs56146840 0.02453
NM_022089.4(ATP13A2):c.1195+199C>G rs116058417 0.02292
NM_022089.4(ATP13A2):c.11-227G>A rs181809608 0.01337
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.*120A>T rs41273151 0.00422
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=) rs79724242 0.00341
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) rs56351817 0.00324
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.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.746C>T (p.Ala249Val) rs145515028 0.00044
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=) rs184878897 0.00039
NM_022089.4(ATP13A2):c.1039+6C>T rs565724504 0.00035
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.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.3258G>A (p.Ala1086=) rs377253172 0.00024
NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=) rs377703085 0.00024
NM_022089.4(ATP13A2):c.1449C>T (p.Tyr483=) rs750600448 0.00014
NM_022089.4(ATP13A2):c.3235+13G>A rs369278996 0.00013
NM_022089.4(ATP13A2):c.1536C>T (p.Phe512=) rs536306337 0.00011
NM_022089.4(ATP13A2):c.252C>T (p.His84=) rs554944790 0.00011
NM_022089.4(ATP13A2):c.2709C>G (p.Val903=) rs145455452 0.00010
NM_022089.4(ATP13A2):c.255C>T (p.Ala85=) rs369906056 0.00009
NM_022089.4(ATP13A2):c.1629T>A (p.Pro543=) rs369352100 0.00008
NM_022089.4(ATP13A2):c.*11C>T rs369889934 0.00007
NM_022089.4(ATP13A2):c.2252-8A>T rs759020707 0.00006
NM_022089.4(ATP13A2):c.*155C>T rs762111359 0.00004
NM_022089.4(ATP13A2):c.2478C>T (p.Ser826=) rs147611385 0.00003
NM_022089.4(ATP13A2):c.3235+10C>T rs567315420 0.00003
NM_022089.4(ATP13A2):c.585C>T (p.Asp195=) rs765706877 0.00002
NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile) rs368423685 0.00001
NM_022089.4(ATP13A2):c.2124G>A (p.Thr708=) rs769045689 0.00001
NM_022089.4(ATP13A2):c.2340C>T (p.His780=) rs769392537 0.00001
NM_022089.4(ATP13A2):c.264C>T (p.Leu88=) rs554781874 0.00001
NM_022089.4(ATP13A2):c.*158T>C rs185521359
NM_022089.4(ATP13A2):c.*158T>G
NM_022089.4(ATP13A2):c.*17C>T
NM_022089.4(ATP13A2):c.1040-242C>G rs9435664
NM_022089.4(ATP13A2):c.1354-24C>T rs146588989
NM_022089.4(ATP13A2):c.1572C>T (p.Asp524=)
NM_022089.4(ATP13A2):c.1750-68T>C rs192446884
NM_022089.4(ATP13A2):c.2412+45C>A rs77880760
NM_022089.4(ATP13A2):c.2610-251A>G rs146038633
NM_022089.4(ATP13A2):c.2643T>C (p.Asn881=) rs1570770528
NM_022089.4(ATP13A2):c.3235+44_3235+55del rs143483351
NM_022089.4(ATP13A2):c.706-13G>T rs374468183
NM_022089.4(ATP13A2):c.744C>T (p.Ile248=)
NM_022089.4(ATP13A2):c.997C>T (p.Leu333=) rs1570854476

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