List of variants in gene PTCH1 reported as benign by Ambry Genetics

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: 30

Download table as spreadsheet

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.1504-8T>C	rs2277184	0.07277
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.3845C>T (p.Pro1282Leu)	rs2227968	0.00959
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=)	rs2066830	0.00827
NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=)	rs62637630	0.00663
NM_000264.5(PTCH1):c.2937C>T (p.Asn979=)	rs58629309	0.00466
NM_000264.5(PTCH1):c.2799G>A (p.Ala933=)	rs111446700	0.00379
NM_000264.5(PTCH1):c.3692T>C (p.Val1231Ala)	rs182045135	0.00128
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn)	rs142274954	0.00083
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=)	rs28446339	0.00076
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=)	rs2229062	0.00063
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys)	rs147067171	0.00051
NM_000264.5(PTCH1):c.3907C>T (p.Arg1303Cys)	rs56102979	0.00041
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys)	rs556901417	0.00025
NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg)	rs200100952	0.00010
NM_000264.5(PTCH1):c.2689A>G (p.Ile897Val)	rs758483793	0.00006
NM_000264.5(PTCH1):c.4025G>A (p.Arg1342His)	rs575146278	0.00006
NM_000264.5(PTCH1):c.1348-4G>A	rs772826555	0.00003
NM_000264.5(PTCH1):c.1350C>T (p.Leu450=)	rs369109033	0.00003
NM_000264.5(PTCH1):c.4012C>T (p.Arg1338Cys)	rs374346190	0.00003
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu)	rs357564
NM_000264.5(PTCH1):c.3953C>T (p.Pro1318Leu)	rs536440590
NM_000264.5(PTCH1):c.4014_4034del (p.Trp1339_Arg1345del)	rs774819810
NM_000264.5(PTCH1):c.875T>C (p.Met292Thr)	rs748727674

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.