List of variants in gene PTCH1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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: 43

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.*3341T>C	rs138499623	0.00884
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp)	rs140417636	0.00086
NM_000264.5(PTCH1):c.3633C>G (p.Pro1211=)	rs56007343	0.00067
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)	rs138911275	0.00066
NM_000264.5(PTCH1):c.2787C>T (p.Asn929=)	rs145196322	0.00065
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser)	rs113663584	0.00057
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.3687G>A (p.Thr1229=)	rs139123130	0.00048
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)	rs56023271	0.00036
NM_000264.5(PTCH1):c.1216-6C>A	rs186008764	0.00027
NM_001083603.3(PTCH1):c.78G>C (p.Ala26=)	rs200948177	0.00022
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser)	rs574880967	0.00021
NM_001083603.3(PTCH1):c.36G>T (p.Val12=)	rs200215582	0.00021
NM_000264.5(PTCH1):c.567T>C (p.His189=)	rs150759973	0.00016
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile)	rs147025073	0.00012
NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=)	rs369295226	0.00009
NM_000264.5(PTCH1):c.4302C>T (p.Asp1434=)	rs201357130	0.00008
NM_000264.5(PTCH1):c.3963C>T (p.Asp1321=)	rs139071993	0.00007
NM_000264.5(PTCH1):c.882C>T (p.Arg294=)	rs145893445	0.00007
NM_000264.5(PTCH1):c.4212T>C (p.Thr1404=)	rs139086753	0.00006
NM_000264.5(PTCH1):c.4059G>A (p.Ala1353=)	rs368110756	0.00004
NM_001083603.3(PTCH1):c.157G>C (p.Glu53Gln)	rs185570125	0.00004
NM_000264.5(PTCH1):c.3291C>T (p.Thr1097=)	rs141016655	0.00003
NM_000264.5(PTCH1):c.3634G>A (p.Gly1212Ser)	rs559827048	0.00003
NM_000264.5(PTCH1):c.4251C>T (p.His1417=)	rs371960721	0.00003
NM_000264.5(PTCH1):c.4026C>T (p.Arg1342=)	rs576944494	0.00002
NM_000264.5(PTCH1):c.2685G>A (p.Lys895=)	rs1431878972	0.00001
NM_000264.5(PTCH1):c.3169-5T>C	rs367654039	0.00001
NM_000264.5(PTCH1):c.4050G>A (p.Arg1350=)	rs748440992	0.00001
NM_000264.5(PTCH1):c.4152G>A (p.Pro1384=)	rs761887390	0.00001
NM_000264.5(PTCH1):c.526C>T (p.Leu176=)	rs2066834	0.00001
NM_000264.5(PTCH1):c.3204C>T (p.Phe1068=)	rs762419846
NM_000264.5(PTCH1):c.3246C>A (p.Pro1082=)
NM_000264.5(PTCH1):c.3408A>G (p.Gly1136=)	rs769601779
NM_000264.5(PTCH1):c.3633C>T (p.Pro1211=)	rs56007343
NM_000264.5(PTCH1):c.3663C>T (p.Ser1221=)	rs369771223
NM_000264.5(PTCH1):c.4116G>T (p.Thr1372=)	rs776937004
NM_000264.5(PTCH1):c.4191C>G (p.Leu1397=)	rs754826635
NM_000264.5(PTCH1):c.999G>A (p.Lys333=)
NM_001083603.3(PTCH1):c.130GAA[6] (p.Glu48_Asn49insGlu)	rs112914470
NM_001083603.3(PTCH1):c.149GAG[1] (p.Gly51del)
NM_001083603.3(PTCH1):c.86G>T (p.Gly29Val)

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.