ClinVar Miner

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

Included ClinVar conditions (7):
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Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_022089.4(ATP13A2):c.2629G>A (p.Gly877Arg) rs144701072 0.00004
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) rs773246271 0.00003
NM_022089.4(ATP13A2):c.490C>T (p.Arg164Trp) rs199624796 0.00002
NM_001256864.2(DNAJC6):c.2223A>T (p.Thr741=) rs879255554 0.00001
NM_022089.4(ATP13A2):c.1459C>T (p.Arg487Ter) rs1303653650 0.00001
NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter) rs2076949269 0.00001
NM_022089.4(ATP13A2):c.2455C>T (p.Arg819Ter) rs866035312 0.00001
NC_000001.10:g.(?_17316166)_(17332293_?)del
NC_000001.10:g.(?_17330807)_(17332293_?)del
NC_000001.11:g.(?_16991714)_(16992601_?)del
NM_001256864.2(DNAJC6):c.2410C>T (p.Gln804Ter) rs398122405
NM_001256864.2(DNAJC6):c.2456dup (p.Gln820fs) rs2101635447
NM_001256864.2(DNAJC6):c.2536C>T (p.Gln846Ter) rs886039854
NM_001256864.2(DNAJC6):c.2779A>G (p.Arg927Gly) rs879255630
NM_001256864.2(DNAJC6):c.454C>T (p.Arg152Ter) rs864622011
NM_001256864.2(DNAJC6):c.677_678dup (p.Ala227fs) rs1645848679
NM_001256864.2(DNAJC6):c.801-2A>G rs398122404
NM_001256864.2(DNAJC6):c.988C>T (p.Arg330Ter) rs1645867120
NM_022089.4(ATP13A2):c.1033_1034del (p.Leu345fs)
NM_022089.4(ATP13A2):c.1101_1102dup (p.Thr368fs) rs762033589
NM_022089.4(ATP13A2):c.1113del (p.His372fs) rs1377055875
NM_022089.4(ATP13A2):c.1296dup (p.Ser433fs)
NM_022089.4(ATP13A2):c.1306+5G>A rs786205056
NM_022089.4(ATP13A2):c.1378del (p.Arg460fs)
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg) rs121918227
NM_022089.4(ATP13A2):c.1633_1654dup (p.Leu552fs) rs2100817106
NM_022089.4(ATP13A2):c.1749+442_2251+512del
NM_022089.4(ATP13A2):c.1825G>T (p.Glu609Ter)
NM_022089.4(ATP13A2):c.1932del (p.Ala646fs)
NM_022089.4(ATP13A2):c.2113C>T (p.Gln705Ter)
NM_022089.4(ATP13A2):c.213G>A (p.Trp71Ter)
NM_022089.4(ATP13A2):c.2146del (p.Asp715_Leu716insTer) rs2100768788
NM_022089.4(ATP13A2):c.217del (p.Val73fs)
NM_022089.4(ATP13A2):c.217dup (p.Val73fs)
NM_022089.4(ATP13A2):c.2540_2550del (p.Gln847fs)
NM_022089.4(ATP13A2):c.2552_2553del (p.Phe851fs) rs587776890
NM_022089.4(ATP13A2):c.2561T>G (p.Met854Arg) rs587777053
NM_022089.4(ATP13A2):c.2587del (p.Val863fs)
NM_022089.4(ATP13A2):c.3136G>T (p.Glu1046Ter) rs1557666781
NM_022089.4(ATP13A2):c.3153dup (p.Ser1052fs)
NM_022089.4(ATP13A2):c.3157_3158del (p.Leu1053fs) rs1570759415
NM_022089.4(ATP13A2):c.348-9_351del rs749798211
NM_022089.4(ATP13A2):c.409del (p.Val137fs) rs2077487643
NM_022089.4(ATP13A2):c.533_536dup (p.Gln179fs)
NM_022089.4(ATP13A2):c.572dup (p.Arg192fs)
NM_022089.4(ATP13A2):c.604del (p.His202fs)
NM_022089.4(ATP13A2):c.619C>T (p.Gln207Ter) rs1483668823
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)
NM_022089.4(ATP13A2):c.965del (p.Gln322fs)
Single allele

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