ClinVar Miner

List of variants reported as uncertain significance for basal ganglia disorder by Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University

Included ClinVar conditions (95):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.915G>T (p.Arg305Ser) rs2115480005
NM_007262.5(PARK7):c.377A>G (p.His126Arg) rs2151436437
NM_198241.3(EIF4G1):c.536C>T (p.Thr179Met) rs981309467
NM_198578.4(LRRK2):c.491T>C (p.Phe164Ser) rs2136421740

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