List of variants in gene PTCH1 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu)	rs2227968	0.00959
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly)	rs202111971	0.00732
NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=)	rs62637630	0.00663
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=)	rs2229062	0.00086
NM_000264.5(PTCH1):c.2787C>T (p.Asn929=)	rs145196322	0.00060
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp)	rs143464326	0.00060
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=)	rs45529536	0.00054
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=)	rs142148876	0.00051
NM_000264.5(PTCH1):c.2887+10G>A	rs202081420	0.00031
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu)	rs201595274	0.00014
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser)	rs370354759	0.00010

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