ClinVar Miner

List of variants studied for Parkinson disease, late-onset by OMIM

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_019851.3(FGF20):c.*182C>T rs12720208 0.05484
NM_012084.4(GLUD2):c.1492T>G (p.Ser498Ala) rs9697983 0.03160
NM_005460.4(SNCAIP):c.1861C>T (p.Arg621Cys) rs28937592 0.00334
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) rs75671029 0.00236
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NG_008165.1:g.12526CAR[46_?]
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_001377265.1(MAPT):c.2060ATA[1] (p.Asn688del) rs63751392
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?]) rs1885090126
NM_004993.6(ATXN3):c.892CAG[8_36] rs193922928
NM_006186.4(NR4A2):c.-245T>G rs2105626807
NM_006186.4(NR4A2):c.-291del
NR_002717.2(ATXN8OS):n.1103CTG[(107_127)]
m.3397A>G rs199476120

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