ClinVar Miner

List of variants in gene PTCH1 reported by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.290del (p.Asn97fs) rs1554708751
NM_000264.5(PTCH1):c.808A>T (p.Lys270Ter) rs1588610324

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