ClinVar Miner

List of variants in gene SACS reported as likely benign for Charlevoix-Saguenay spastic ataxia

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Total variants: 69
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HGVS dbSNP
NM_014363.6(SACS):c.*20del rs143617437
NM_014363.6(SACS):c.-13A>G rs17078720
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601
NM_014363.6(SACS):c.1152T>G (p.Thr384=) rs185643322
NM_014363.6(SACS):c.1173T>A (p.Ser391=) rs150683286
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.6(SACS):c.1374A>G (p.Thr458=) rs149129638
NM_014363.6(SACS):c.1464G>A (p.Pro488=) rs375352514
NM_014363.6(SACS):c.1593C>T (p.Ile531=) rs113756713
NM_014363.6(SACS):c.159C>G (p.Arg53=) rs968138431
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365
NM_014363.6(SACS):c.171+6C>T rs3751368
NM_014363.6(SACS):c.1728C>T (p.Tyr576=) rs750748828
NM_014363.6(SACS):c.1752A>G (p.Leu584=) rs368626712
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr) rs778572943
NM_014363.6(SACS):c.2234G>A (p.Arg745His) rs143677534
NM_014363.6(SACS):c.2487C>T (p.Asp829=) rs151198216
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958
NM_014363.6(SACS):c.2733C>T (p.Thr911=) rs199702597
NM_014363.6(SACS):c.2929C>T (p.Leu977=) rs146296924
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361
NM_014363.6(SACS):c.3345C>T (p.Val1115=) rs143287019
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_014363.6(SACS):c.4878C>T (p.Gly1626=) rs778664565
NM_014363.6(SACS):c.4998A>G (p.Thr1666=) rs184994682
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile) rs201724656
NM_014363.6(SACS):c.5274C>T (p.Cys1758=) rs201982449
NM_014363.6(SACS):c.5529G>C (p.Leu1843=) rs148091738
NM_014363.6(SACS):c.5841C>T (p.Pro1947=) rs145371235
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) rs9550956
NM_014363.6(SACS):c.6561C>T (p.Ile2187=) rs143477126
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608
NM_014363.6(SACS):c.7354T>C (p.Leu2452=) rs761258047
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) rs140034972
NM_014363.6(SACS):c.7647T>G (p.Leu2549=) rs186301471
NM_014363.6(SACS):c.7713A>T (p.Pro2571=) rs557113294
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789
NM_014363.6(SACS):c.7812T>C (p.Ile2604=) rs1593127031
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) rs143386746
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr) rs61742502
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val) rs61742500
NM_014363.6(SACS):c.8577C>T (p.His2859=) rs140016265
NM_014363.6(SACS):c.861C>T (p.Tyr287=) rs200877272
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929
NM_014363.6(SACS):c.8922A>G (p.Leu2974=) rs563864403
NM_014363.6(SACS):c.8931A>G (p.Leu2977=) rs376228714
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020
NM_014363.6(SACS):c.9399A>G (p.Lys3133=) rs762665640
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528

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