List of variants in gene PTCH2 reported as uncertain significance for Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Medulloblastoma

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
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

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