List of variants studied for asphyxiating thoracic dystrophy 3 by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

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

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_174905.4(FAM98C):c.844C>T (p.Arg282Ter)	rs201037487	0.00004
NM_001199397.3(NEK1):c.1690_1691del (p.Met564fs)	rs786205645
NM_001377.3(DYNC2H1):c.3331G>A (p.Glu1111Lys)	rs1860716899
NM_001377.3(DYNC2H1):c.3638T>G (p.Leu1213Arg)	rs886039812
NM_018051.5(DYNC2I1):c.772_775del (p.Glu258fs)	rs1843823774
NM_018051.5(DYNC2I1):c.899G>T (p.Arg300Leu)	rs899172501
NM_024685.4(BBS10):c.959_962del (p.Ser320fs)	rs758522600
NM_152766.5(TMEM256):c.244_265del (p.Phe82fs)	rs886039795
NM_152773.5(DYNLT2B):c.317+4A>T	rs886039815

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.