ClinVar Miner

List of variants reported as uncertain significance for Early-onset Parkinson disease 20

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Total variants: 9
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HGVS dbSNP gnomAD frequency
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_203446.3(SYNJ1):c.-56G>T rs1486511197 0.00001
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.1646G>A (p.Arg549His) rs1363168296
NM_203446.3(SYNJ1):c.319C>T (p.Arg107Ter)
NM_203446.3(SYNJ1):c.3394G>T (p.Ala1132Ser)
NM_203446.3(SYNJ1):c.577T>C (p.Tyr193His) rs2042158818

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