List of variants studied for ectodermal dysplasia syndrome by Clinical Genomics Laboratory, Washington University in St. Louis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)	rs121908120	0.01450
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val)	rs201481342	0.00005
NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro)	rs923739321	0.00004
NM_004333.6(BRAF):c.89G>A (p.Gly30Asp)	rs1273585752	0.00001
NM_004415.4(DSP):c.4735C>T (p.Arg1579Trp)	rs755868373	0.00001
NM_001854.4(COL11A1):c.1951C>T (p.Arg651Ter)
NM_001854.4(COL11A1):c.2890G>A (p.Gly964Arg)
NM_002755.4(MAP2K1):c.1023-4T>A
NM_002755.4(MAP2K1):c.646A>G (p.Ile216Val)
NM_004333.6(BRAF):c.2065A>G (p.Met689Val)
NM_012461.3(TINF2):c.*259GT[2]
NM_025216.3(WNT10A):c.456C>T (p.Gly152=)	rs1359098202

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.