ClinVar Miner

List of variants in gene DYNC1H1 studied for Charcot-Marie-Tooth disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_001376.5(DYNC1H1):c.11402A>C (p.Tyr3801Ser)
NM_001376.5(DYNC1H1):c.11416A>C (p.Thr3806Pro)
NM_001376.5(DYNC1H1):c.11618G>C (p.Arg3873Pro)
NM_001376.5(DYNC1H1):c.12763C>G (p.Arg4255Gly)
NM_001376.5(DYNC1H1):c.12767T>G (p.Val4256Gly)
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609
NM_001376.5(DYNC1H1):c.13166A>G (p.His4389Arg)
NM_001376.5(DYNC1H1):c.13565C>T (p.Thr4522Ile)
NM_001376.5(DYNC1H1):c.13795G>A (p.Glu4599Lys)
NM_001376.5(DYNC1H1):c.13912C>T (p.Arg4638Trp)
NM_001376.5(DYNC1H1):c.1700G>A (p.Arg567His) rs587781253
NM_001376.5(DYNC1H1):c.3845T>G (p.Ile1282Arg)
NM_001376.5(DYNC1H1):c.6023T>G (p.Val2008Gly)
NM_001376.5(DYNC1H1):c.6222-4C>T
NM_001376.5(DYNC1H1):c.6728G>T (p.Arg2243Ile)
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly)
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001376.5(DYNC1H1):c.9331A>G (p.Ser3111Gly)
NM_001376.5(DYNC1H1):c.9703G>C (p.Ala3235Pro)
NM_001376.5(DYNC1H1):c.9858A>C (p.Glu3286Asp)

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.