List of variants in gene PTCH1 studied for Holoprosencephaly sequence

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)	rs138911275	0.00066
NM_000264.5(PTCH1):c.*1866TG[10]	rs59205702
NM_000264.5(PTCH1):c.*1866TG[12]	rs59205702
NM_000264.5(PTCH1):c.*1893GT[4]	rs531572088
NM_000264.5(PTCH1):c.*2288dup	rs548096592
NM_000264.5(PTCH1):c.*2988TTGT[1]	rs139748418
NM_000264.5(PTCH1):c.*664dup	rs111365480
NM_000264.5(PTCH1):c.748_749insACTT	rs147342582
NM_000264.5(PTCH1):c.748_749insATTT	rs1554687587
NM_000264.5(PTCH1):c.1602+15_1602+17del	rs528001004

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.