ClinVar Miner

List of variants studied for Young-onset Parkinson disease by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604 0.00013
NM_020821.3(VPS13C):c.1111C>T (p.Arg371Ter) rs752457309 0.00002
NM_020821.3(VPS13C):c.1119G>A (p.Trp373Ter) rs2046893100
NM_020821.3(VPS13C):c.2408+1G>A
NM_020821.3(VPS13C):c.3331G>T (p.Gly1111Ter)
NM_020821.3(VPS13C):c.3908+2T>C
NM_020821.3(VPS13C):c.4165G>C (p.Gly1389Arg) rs369100678
NM_020821.3(VPS13C):c.5462T>A (p.Leu1821Ter)
NM_020821.3(VPS13C):c.5698C>T (p.Gln1900Ter)

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