ClinVar Miner

List of variants in gene PTCH1 reported by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.2740A>G (p.Ile914Val)	rs1441750517	0.00001
NM_000264.5(PTCH1):c.1491T>C (p.Ala497=)	rs1060504538

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