ClinVar Miner

List of variants reported as pathogenic for Parkinson disease

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NC_000004.11:g.39350045_39350099delinsAAGGG[(141_831)]
NM_020821.3(VPS13C):c.4165G>C (p.Gly1389Arg) rs369100678
NM_020821.3(VPS13C):c.4777del (p.Gln1593fs) rs869312811
NM_020821.3(VPS13C):c.806_807insCAGA (p.Arg269fs) rs879253853
NM_020821.3(VPS13C):c.8445+2T>G rs869312809
NM_020821.3(VPS13C):c.9568G>T (p.Glu3190Ter) rs869312810

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