ClinVar Miner

List of variants reported as benign for juvenile-onset Parkinson disease

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.1195+66A>G rs9435736 0.80687
NM_001256864.2(DNAJC6):c.2010A>C (p.Pro670=) rs4582839 0.69474
NM_001256864.2(DNAJC6):c.194-21G>T rs2296478 0.58031
NM_001256864.2(DNAJC6):c.194-19T>G rs2296479 0.57220
NM_022089.4(ATP13A2):c.705+228A>G rs2871776 0.56136
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=) rs2076603 0.55111
NM_001256864.2(DNAJC6):c.1500G>A (p.Glu500=) rs4325172 0.44325
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_001256864.2(DNAJC6):c.544-9C>T rs2296481 0.25003
NM_022089.4(ATP13A2):c.3084-3C>T rs7531163 0.23688
NM_001256864.2(DNAJC6):c.2183G>A (p.Ser728Asn) rs4915691 0.20494
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=) rs3738815 0.20463
NM_001256864.2(DNAJC6):c.1983T>C (p.Ser661=) rs12077111 0.17885
NM_001256864.2(DNAJC6):c.1506C>T (p.His502=) rs11208644 0.17883
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_001256864.2(DNAJC6):c.194-20_194-19insG rs111346712 0.03019
NM_022089.4(ATP13A2):c.3235+17G>A rs56146840 0.02453
NM_001256864.2(DNAJC6):c.678G>A (p.Ala226=) rs61753391 0.01829
NM_001256864.2(DNAJC6):c.1710G>A (p.Pro570=) rs7551930 0.01341
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=) rs61739752 0.01259
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe) rs78141380 0.01170
NM_022089.4(ATP13A2):c.2763-16G>A rs114407349 0.01044
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.*140C>G rs557545457 0.00509
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=) rs55979991 0.00505
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_001256864.2(DNAJC6):c.1320A>T (p.Thr440=) rs142136708 0.00462
NM_022089.4(ATP13A2):c.*120A>T rs41273151 0.00422
NM_022089.4(ATP13A2):c.*231G>A rs76298930 0.00409
NM_001256864.2(DNAJC6):c.745A>G (p.Ile249Val) rs149588872 0.00357
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_001256864.2(DNAJC6):c.194-18T>G rs201249130 0.00252
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.2367C>T (p.Leu789=) rs140048110 0.00195
NM_001256864.2(DNAJC6):c.996-9T>C rs187965193 0.00178
NM_022089.4(ATP13A2):c.3406-14C>T rs139088170 0.00163
NM_022089.4(ATP13A2):c.706-14C>T rs371532404 0.00128
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304 0.00127
NM_001256864.2(DNAJC6):c.513G>A (p.Lys171=) rs148204207 0.00101
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=) rs148391179 0.00091
NM_001256864.2(DNAJC6):c.1266A>T (p.Leu422=) rs61758427 0.00078
NM_001256864.2(DNAJC6):c.2451T>G (p.Pro817=) rs61733018 0.00076
NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser) rs547860186 0.00072
NM_022089.4(ATP13A2):c.106-14C>T rs199706883 0.00054
NM_022089.4(ATP13A2):c.3405+9C>T rs374766933 0.00051
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=) rs184878897 0.00039
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu) rs201756175 0.00034
NM_001256864.2(DNAJC6):c.194-17T>G rs372128441 0.00032
NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=) rs148970081 0.00031
NM_022089.4(ATP13A2):c.106-5C>T rs117838709 0.00014
NM_022089.4(ATP13A2):c.114C>T (p.Ser38=) rs368279466 0.00011
NM_022089.4(ATP13A2):c.1536C>T (p.Phe512=) rs536306337 0.00011
NM_022089.4(ATP13A2):c.635+15G>A rs563778719 0.00009
NM_022089.4(ATP13A2):c.2529+9G>A rs200809857 0.00006
NM_001256864.2(DNAJC6):c.2331C>T (p.Gly777=) rs370155769 0.00003
NM_001256864.2(DNAJC6):c.1041C>A (p.Ile347=)
NM_001256864.2(DNAJC6):c.194-6del rs58549467
NM_001256864.2(DNAJC6):c.194-7_194-6del
NM_001256864.2(DNAJC6):c.2025G>A (p.Ser675=)
NM_001256864.2(DNAJC6):c.544-20C>T
NM_001256864.2(DNAJC6):c.845G>A (p.Arg282His)
NM_022089.4(ATP13A2):c.1845+15del
NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=) rs369722835
NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=) rs544545629
NM_022089.4(ATP13A2):c.2251+20C>T

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