List of variants in gene PTCH1 studied for Inborn genetic diseases

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.1579C>T (p.Gln527Ter)	rs1554698260
NM_000264.5(PTCH1):c.234G>A (p.Trp78Ter)	rs1554708787
NM_000264.5(PTCH1):c.2887+2T>C	rs1839273008
NM_000264.5(PTCH1):c.3107T>A (p.Leu1036Ter)	rs1554691359
NM_000264.5(PTCH1):c.3549+1G>A	rs1838303542

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