ClinVar Miner

List of variants in gene PTCH1 reported by Klinisk genetik och genomik Research, Gothenburg University

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.1193C>T (p.Ala398Val)	rs375098989	0.00001
NM_000264.5(PTCH1):c.1347+6G>T	rs372655486

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