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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser)	rs2236405	0.04656
NM_000264.5(PTCH1):c.3141T>G (p.Leu1047=)	rs2066835	0.03773
NM_000264.5(PTCH1):c.735A>G (p.Thr245=)	rs1805154	0.02243
NM_000264.5(PTCH1):c.318C>T (p.Leu106=)	rs1805153	0.01567
NM_000264.5(PTCH1):c.3606C>T (p.Pro1202=)	rs138240178	0.01089
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=)	rs2066830	0.00772
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=)	rs2066831	0.00677
NM_000264.5(PTCH1):c.1074T>C (p.His358=)	rs2066832	0.00674
NM_000264.5(PTCH1):c.2799G>A (p.Ala933=)	rs111446700	0.00379
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=)	rs28446339	0.00076
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=)	rs142148876	0.00051
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=)	rs62637631

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