ClinVar Miner

List of variants studied for Early-onset Parkinson disease 20

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_203446.3(SYNJ1):c.3518-7G>T rs2833929 0.28042
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) rs150233690 0.00062
NM_203446.3(SYNJ1):c.1906G>A (p.Val636Ile) rs373820739 0.00007
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter) rs141263564 0.00006
NM_203446.3(SYNJ1):c.1318T>C (p.Tyr440His) rs1454342974 0.00001
NM_203446.3(SYNJ1):c.3601C>T (p.Arg1201Cys) rs114994257 0.00001
NM_203446.3(SYNJ1):c.656G>A (p.Arg219Gln) rs398122403 0.00001
NM_203446.3(SYNJ1):c.*186_*187insAATACT rs57257560
NM_203446.3(SYNJ1):c.1001A>G (p.Asp334Gly) rs2146090425
NM_203446.3(SYNJ1):c.1259G>C (p.Arg420Pro) rs1060499619
NM_203446.3(SYNJ1):c.2242C>T (p.Gln748Ter)
NM_203446.3(SYNJ1):c.2254del (p.Asp752fs) rs2040866242
NM_203446.3(SYNJ1):c.2398C>T (p.Arg800Cys)
NM_203446.3(SYNJ1):c.319C>T (p.Arg107Ter)
NM_203446.3(SYNJ1):c.3394G>T (p.Ala1132Ser)
NM_203446.3(SYNJ1):c.395G>A (p.Trp132Ter) rs1555907463
NM_203446.3(SYNJ1):c.577T>C (p.Tyr193His) rs2042158818

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