ClinVar Miner

List of variants reported as pathogenic for Parkinson disease by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000157.4(GBA):c.115+1G>A rs104886460
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000157.4(GBA):c.1297G>T (p.Val433Leu) rs80356769
NM_000157.4(GBA):c.1342G>C (p.Asp448His) rs1064651
NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) rs80356771
NM_000157.4(GBA):c.1604G>A (p.Arg535His) rs75822236
NM_000157.4(GBA):c.887G>A (p.Arg296Gln) rs78973108
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986
NM_016835.4(MAPT):c.1788T>G (p.Asn596Lys) rs63750756
NM_016835.4(MAPT):c.1853C>T (p.Pro618Leu) rs63751273
NM_016835.4(MAPT):c.2167C>T (p.Arg723Trp) rs63750424
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) rs773246271
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584

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