ClinVar Miner

List of variants in gene PTCH1 studied for hereditary retinoblastoma

Included ClinVar conditions (3):

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.1028T>C (p.Val343Ala)	rs962982192	0.00001
NM_000264.5(PTCH1):c.4303G>A (p.Val1435Met)	rs587778632	0.00001
NM_000264.5(PTCH1):c.209C>T (p.Ala70Val)	rs764137082

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