ClinVar Miner

List of variants in gene PTCH1 reported by Center of Genomic medicine, Geneva, University Hospital of Geneva

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.1538A>T (p.Asp513Val) rs1564048907

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