ClinVar Miner

List of variants studied for parkinsonian-pyramidal syndrome by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_012179.4(FBXO7):c.133C>T (p.Arg45Ter) rs1370252127 0.00001
NM_012179.4(FBXO7):c.1268_1272dup (p.Tyr425fs) rs749534144
NM_012179.4(FBXO7):c.1536_1539del (p.Arg513fs) rs772175765

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