List of variants in gene DYNC2H1 reported by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val)	rs137853026	0.00105
NM_001377.3(DYNC2H1):c.8833-3T>C	rs551227065	0.00009
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)	rs771487311	0.00007
NM_001377.3(DYNC2H1):c.10100G>A (p.Arg3367His)	rs759549373	0.00004
NM_001377.3(DYNC2H1):c.5547del (p.Phe1849fs)	rs771003300	0.00002
NM_001377.3(DYNC2H1):c.5357G>C (p.Gly1786Ala)	rs2134975573
NM_001377.3(DYNC2H1):c.6023T>C (p.Met2008Thr)	rs2134994767

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.