ClinVar Miner

List of variants reported as likely pathogenic for Parkinson disease

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NC_000001.10:g.(?_8029385)_(8029484_?)del
NC_000006.11:g.(?_162683537)_(162683817_?)dup
NM_001018111.3(PODXL):c.89_90insGTCGCCCC (p.Gln32fs) rs1554391082
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687
NM_003895.3(SYNJ1):c.1318-2A>G rs1569086116
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604
NM_004562.3(PRKN):c.734+1G>A rs1562430103
NM_005781.4(TNK2):c.2630G>A (p.Arg877His) rs112384084
NM_015575.4(GIGYF2):c.2378C>T (p.Ala793Val) rs748538823
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065
NM_022089.4(ATP13A2):c.477+2T>G rs758014228
NM_022089.4(ATP13A2):c.943G>A (p.Gly315Arg) rs150519745
NM_198578.4(LRRK2):c.4321C>A (p.Arg1441Ser) rs33939927
Single allele

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