ClinVar Miner

List of variants in gene DDOST, PINK1 studied for basal ganglia disorder

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_032409.3(PINK1):c.*181C>G rs513414 0.84999
NM_032409.3(PINK1):c.*37A>T rs686658 0.84751
NM_032409.3(PINK1):c.*265G>T rs512550 0.56246
NM_032409.3(PINK1):c.*672T>C rs2078073 0.27437
NM_032409.3(PINK1):c.*564T>G rs1043502 0.27404
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) rs1043424 0.27338
NM_032409.3(PINK1):c.*196T>C rs1043443 0.27336
NM_032409.3(PINK1):c.*415C>G rs8064 0.14517
NM_032409.3(PINK1):c.*490A>C rs16824318 0.02268

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