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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 41

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.10338G>A (p.Gln3446=)	rs2737701	0.98600
NM_014363.6(SACS):c.9981T>C (p.Ala3327=)	rs2737700	0.36123
NM_014363.6(SACS):c.-13A>G	rs17078720	0.27905
NM_014363.6(SACS):c.6195T>C (p.Ile2065=)	rs4143768	0.21785
NM_014363.6(SACS):c.8853T>C (p.Val2951=)	rs9552929	0.21755
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala)	rs17078605	0.21747
NM_014363.6(SACS):c.12304T>C (p.Leu4102=)	rs2737699	0.21736
NM_014363.6(SACS):c.696T>A (p.Asn232Lys)	rs2031640	0.08558
NM_014363.6(SACS):c.1656A>G (p.Leu552=)	rs1536365	0.08543
NM_014363.6(SACS):c.909A>G (p.Ala303=)	rs41315020	0.03313
NM_014363.6(SACS):c.1839G>A (p.Gln613=)	rs35840595	0.02863
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)	rs17325713	0.02528
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala)	rs17078601	0.02418
NM_014363.6(SACS):c.7149C>T (p.Arg2383=)	rs17078608	0.01409
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)	rs35670472	0.00986
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)	rs11554397	0.00978
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)	rs35799469	0.00804
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro)	rs61326562	0.00706
NM_014363.6(SACS):c.6069C>T (p.Asn2023=)	rs35369023	0.00706
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)	rs61548169	0.00705
NM_014363.6(SACS):c.5502G>C (p.Leu1834=)	rs34389000	0.00705
NM_014363.6(SACS):c.4188C>T (p.His1396=)	rs61754477	0.00688
NM_014363.6(SACS):c.6267G>A (p.Ser2089=)	rs9550956	0.00688
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met)	rs35256065	0.00558
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)	rs147099630	0.00521
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)	rs146722795	0.00506
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)	rs112630127	0.00451
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)	rs116791509	0.00448
NM_014363.6(SACS):c.10821C>A (p.Ile3607=)	rs113595574	0.00447
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser)	rs80132141	0.00343
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)	rs34382952	0.00326
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)	rs148878361	0.00292
NM_014363.6(SACS):c.9846A>G (p.Pro3282=)	rs61753111	0.00281
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)	rs137856939	0.00236
NM_014363.6(SACS):c.1917A>G (p.Ala639=)	rs138457742	0.00084
NM_014363.6(SACS):c.2146C>T (p.His716Tyr)	rs146852400	0.00075
NM_014363.6(SACS):c.3144A>G (p.Val1048=)	rs3751369	0.00035
NM_014363.6(SACS):c.1224C>T (p.Asp408=)	rs2274386	0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)	rs376680832	0.00004
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)	rs34928783
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg)	rs11839380

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