List of variants reported as likely pathogenic for hereditary epidermal appendage anomaly by Ambry Genetics

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

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_198253.3(TERT):c.1700C>T (p.Thr567Met)	rs886039438	0.00001
NM_198253.3(TERT):c.2080G>A (p.Val694Met)	rs121918662	0.00001
NM_198253.3(TERT):c.2701C>T (p.Arg901Trp)	rs199422304	0.00001
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp)	rs1422814635	0.00001
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu)	rs121912289
NM_001363.5(DKC1):c.191T>G (p.Val64Gly)	rs2071739379
NM_198253.3(TERT):c.1438T>C (p.Ser480Pro)	rs917650159
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys)	rs199422293
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)	rs1194223999
NM_198253.3(TERT):c.2147C>T (p.Ala716Val)	rs199422298
NM_198253.3(TERT):c.2286+1G>A	rs1749780301
NM_198253.3(TERT):c.2593C>T (p.Arg865Cys)	rs372868296
NM_198253.3(TERT):c.2648T>G (p.Phe883Cys)
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu)	rs387907251
NM_198253.3(TERT):c.421C>G (p.Leu141Val)	rs775225240

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.