ClinVar Miner

List of variants in gene DCTN1 reported as likely benign for Perry syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004082.5(DCTN1):c.2258C>T (p.Thr753Met) rs143763184 0.00179
NM_004082.5(DCTN1):c.3610-14C>T rs757854575 0.00038
NM_004082.5(DCTN1):c.3490A>G (p.Thr1164Ala) rs72466493 0.00024
NM_004082.5(DCTN1):c.*49G>A rs368049781 0.00013
NM_004082.5(DCTN1):c.2002C>T (p.His668Tyr) rs764443534 0.00006
NM_004082.5(DCTN1):c.60G>A (p.Ala20=) rs150204862 0.00005
NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp) rs371723224 0.00004
NM_004082.5(DCTN1):c.2633A>G (p.Tyr878Cys) rs778201974 0.00003
NM_004082.5(DCTN1):c.1059C>T (p.Gly353=) rs771325809 0.00001
NM_004082.5(DCTN1):c.3712C>G (p.Gln1238Glu) rs778307537 0.00001

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.