List of variants in gene PTCH1 reported by Genetic Services Laboratory, University of Chicago

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu)	rs2227968	0.00959
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.3567C>T (p.Gly1189=)	rs62637630	0.00663
NM_000264.5(PTCH1):c.2799G>A (p.Ala933=)	rs111446700	0.00379
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=)	rs2229062	0.00086
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=)	rs28446339	0.00076
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser)	rs113663584	0.00058
NM_000264.5(PTCH1):c.3435C>T (p.Phe1145=)	rs200435277	0.00012
NM_000264.5(PTCH1):c.388G>A (p.Val130Met)	rs746339472	0.00002
NM_000264.5(PTCH1):c.3264T>A (p.Ala1088=)	rs1361137530	0.00001
NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu)	rs1368334005	0.00001
NM_000264.5(PTCH1):c.3730C>T (p.Gln1244Ter)	rs2136598174
NM_000264.5(PTCH1):c.4179C>T (p.Pro1393=)	rs1057521043

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