ClinVar Miner

List of variants in gene DYNC1H1 reported as pathogenic for Mental retardation, autosomal dominant 13

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_001376.5(DYNC1H1):c.10008G>T (p.Lys3336Asn) rs397509410
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln) rs397509412
NM_001376.5(DYNC1H1):c.10151G>A (p.Arg3384Gln) rs397509411
NM_001376.5(DYNC1H1):c.10573C>T (p.Arg3525Cys) rs869312693
NM_001376.5(DYNC1H1):c.11465A>C (p.His3822Pro) rs387906739
NM_001376.5(DYNC1H1):c.1706G>C (p.Arg569Pro) rs797045178
NM_001376.5(DYNC1H1):c.4552G>A (p.Glu1518Lys) rs387906740
NM_001376.5(DYNC1H1):c.926G>A (p.Arg309His) rs797045177

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.