List of variants in gene PTCH1 reported by Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)

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: 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.735A>G (p.Thr245=)	rs1805154	0.02243
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu)	rs2227968	0.00959
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=)	rs2066830	0.00772
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly)	rs202111971	0.00732
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp)	rs140417636	0.00086
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=)	rs28446339	0.00076
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)	rs138911275	0.00062
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp)	rs143464326	0.00060
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)	rs56023271	0.00036
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu)	rs201595274	0.00014
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=)	rs62637631

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