ClinVar Miner

List of variants reported as risk factor for Parkinson disease

Included ClinVar conditions (32):
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Total variants: 27
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HGVS dbSNP
ATXN8, (CAG)n EXPANSION
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000157.4(GBA):c.1444G>A (p.Asp482Asn) rs75671029
NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) rs80356771
NM_000669.5(ADH1C):c.232G>T (p.Gly78Ter) rs283413
NM_004181.5(UCHL1):c.279C>G (p.Ile93Met) rs121917767
NM_004993.5(ATXN3):c.892_894CAG(8_36) (p.Gln298_Gln305=) rs193922928
NM_013247.4(HTRA2):c.421G>T (p.Ala141Ser) rs72470544
NM_013247.4(HTRA2):c.427C>G (p.Pro143Ala) rs387906942
NM_015575.4(GIGYF2):c.1262A>G (p.Lys421Arg) rs115735611
NM_015575.4(GIGYF2):c.1370A>C (p.Asn457Thr) rs116074753
NM_015575.4(GIGYF2):c.167A>G (p.Asn56Ser) rs72554080
NM_015575.4(GIGYF2):c.1818C>G (p.Asp606Glu) rs118203903
NM_015575.4(GIGYF2):c.832A>G (p.Ile278Val) rs118203904
NM_016835.4(MAPT):c.1835_1837ATA[1] (p.Asn613del) rs63751392
NM_032409.3(PINK1):c.1291T>C (p.Tyr431His) rs74315361
NM_032603.5(LOXL3):c.*908C>T rs72470545
NM_198241.3(EIF4G1):c.1505C>T (p.Ala502Val) rs111290936
NM_198241.3(EIF4G1):c.3614G>A (p.Arg1205His) rs112176450
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348
NP_002964.3:p.Gln166(>=33)
TBP, (CAG)n EXPANSION
m.12397A>G rs1556424100
m.14319T>C rs199476110
m.15950G>A rs118203890
m.15965A>G rs199474700

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