ClinVar Miner

List of variants in gene DYNC1H1 reported as likely benign for Spinocerebellar Ataxia, Dominant

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_001376.4(DYNC1H1):c.*190A>G rs13901
NM_001376.4(DYNC1H1):c.*232C>T rs17512996
NM_001376.4(DYNC1H1):c.-53G>A rs2273436
NM_001376.4(DYNC1H1):c.-5A>G rs17511858
NM_001376.4(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505
NM_001376.4(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238
NM_001376.4(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889
NM_001376.4(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196
NM_001376.4(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749
NM_001376.4(DYNC1H1):c.13372+4C>T rs17541657
NM_001376.4(DYNC1H1):c.13372+9G>A rs1004903
NM_001376.4(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054
NM_001376.4(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082
NM_001376.4(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215
NM_001376.4(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489
NM_001376.4(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957
NM_001376.4(DYNC1H1):c.46T>C (p.Leu16=) rs2273437
NM_001376.4(DYNC1H1):c.6221+13G>T rs17541088
NM_001376.4(DYNC1H1):c.624G>A (p.Pro208=) rs3818188
NM_001376.4(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439
NM_001376.4(DYNC1H1):c.738A>G (p.Gln246=) rs117189734
NM_001376.4(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090
NM_001376.4(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158
NM_001376.4(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179
NM_001376.4(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460
NM_001376.4(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870

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.