List of variants in gene PTCH2 studied for Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Medulloblastoma

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003738.5(PTCH2):c.2565C>T (p.Leu855=)	rs34245589	0.00406
NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met)	rs11573598	0.00155
NM_003738.5(PTCH2):c.1994G>A (p.Arg665His)	rs138588008	0.00103
NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr)	rs147669300	0.00037
NM_003738.5(PTCH2):c.2661C>T (p.His887=)	rs149815763	0.00016
NM_003738.5(PTCH2):c.565C>G (p.Leu189Val)	rs747885797	0.00003
NM_003738.5(PTCH2):c.19C>G (p.Leu7Val)	rs1030456781	0.00002
NM_003738.5(PTCH2):c.247G>A (p.Glu83Lys)	rs781204167	0.00002
NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu)	rs539161089	0.00002
NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys)	rs768246990	0.00001
NM_003738.5(PTCH2):c.550G>A (p.Val184Met)	rs748846701	0.00001

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.