ClinVar Miner

List of variants in gene SYNE1 studied for Spinocerebellar ataxia, autosomal recessive 8

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP
NM_033071.3(SYNE1):c.1042G>T (p.Glu348Ter) rs1203553546
NM_033071.3(SYNE1):c.10789C>T (p.Arg3597Ter) rs606231292
NM_033071.3(SYNE1):c.11696_11697del (p.Met3899fs) rs606231135
NM_033071.3(SYNE1):c.1390del (p.Asp464fs) rs1554768245
NM_033071.3(SYNE1):c.1397A>C (p.His466Pro)
NM_033071.3(SYNE1):c.16177-2A>C rs759460806
NM_033071.3(SYNE1):c.16208C>A (p.Ser5403Ter) rs797046024
NM_033071.3(SYNE1):c.1954-2A>G rs1554753528
NM_033071.3(SYNE1):c.20935C>T (p.Arg6979Ter) rs763325410
NM_033071.3(SYNE1):c.21519C>A (p.Tyr7173Ter) rs1554226673
NM_033071.3(SYNE1):c.21528C>A (p.Tyr7176Ter)
NM_033071.3(SYNE1):c.21832-2dup rs35128811
NM_033071.3(SYNE1):c.22195G>T (p.Glu7399Ter) rs1554573328
NM_033071.3(SYNE1):c.22788dup (p.Leu7597fs) rs1554553667
NM_033071.3(SYNE1):c.24865C>T (p.Gln8289Ter) rs797046025
NM_033071.3(SYNE1):c.3417-10_3417delinsC rs863224929
NM_033071.3(SYNE1):c.3520_3521del (p.Ala1173_Val1174insTer) rs1554721227
NM_033071.3(SYNE1):c.501_502CT[1] (p.Ser167_Ser168insTer) rs1554829141
NM_033071.3(SYNE1):c.5182G>T (p.Glu1728Ter) rs1554676394
NM_033071.3(SYNE1):c.6898del (p.Glu2300fs) rs797046026
NM_033071.3(SYNE1):c.[20050C>T];[7938G>A]
NM_033071.3(SYNE1):c.[4482+1G>T];[9646A>T]
NM_182961.4(SYNE1):c.10217A>C (p.Asp3406Ala) rs546645393
NM_182961.4(SYNE1):c.11083-4A>G rs764920428
NM_182961.4(SYNE1):c.13299del (p.His4433fs) rs1563130387
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343
NM_182961.4(SYNE1):c.1447G>A (p.Glu483Lys) rs1554768095
NM_182961.4(SYNE1):c.15918-12A>G rs606231134
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604
NM_182961.4(SYNE1):c.18012+1G>T rs1562842409
NM_182961.4(SYNE1):c.20970del (p.Asp6991fs) rs1554247806
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr) rs202121741
NM_182961.4(SYNE1):c.22369C>T (p.Gln7457Ter) rs119103245
NM_182961.4(SYNE1):c.23131C>T (p.Gln7711Ter) rs119103244
NM_182961.4(SYNE1):c.25717A>G (p.Lys8573Glu) rs1562922141
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047
NM_182961.4(SYNE1):c.3023G>A (p.Trp1008Ter) rs1564136499
NM_182961.4(SYNE1):c.3674A>G (p.Glu1225Gly) rs1564070652
NM_182961.4(SYNE1):c.3930_3931dup (p.His1311fs)
NM_182961.4(SYNE1):c.3930_3931insGG (p.His1311fs) rs797045109
NM_182961.4(SYNE1):c.4329G>T (p.Met1443Ile) rs1245972676
NM_182961.4(SYNE1):c.434T>A (p.Leu145His) rs755531859
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser) rs199769508
NM_182961.4(SYNE1):c.5098C>T (p.Gln1700Ter) rs1563941569
NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter) rs119103243
SYNE1, 5-BP DEL, NT334338
SYNE1, IVS84AS, A-G, -2

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.