List of variants in gene PTCH1 reported as benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.1686C>T (p.Ala562=)	rs2066836	0.15395
NM_000264.5(PTCH1):c.1665T>C (p.Asn555=)	rs1805155	0.12597
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser)	rs2236405	0.04656
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His)	rs73527759	0.02608
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.3845C>T (p.Pro1282Leu)	rs2227968	0.00959
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=)	rs2066830	0.00827
NM_000264.5(PTCH1):c.2937C>T (p.Asn979=)	rs58629309	0.00466
NM_000264.5(PTCH1):c.1602+15_1602+17del	rs528001004
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu)	rs357564
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=)	rs62637631

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