List of variants in gene PTCH1 reported as pathogenic for Basal cell carcinoma, susceptibility to, 1; Holoprosencephaly 7; Basal cell nevus syndrome 1

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.1208_1209del (p.Tyr403fs)	rs1060502286
NM_000264.5(PTCH1):c.1602+1G>T	rs1060502277
NM_000264.5(PTCH1):c.563dup (p.His189fs)

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