List of variants studied for Charlevoix-Saguenay spastic ataxia by 3billion

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)	rs750732115	0.00002
NM_014363.6(SACS):c.11008_11013del (p.Tyr3670_Gln3671del)	rs2137570036
NM_014363.6(SACS):c.1252C>G (p.Pro418Ala)
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter)	rs747868017
NM_014363.6(SACS):c.1596T>A (p.Tyr532Ter)	rs2137720760
NM_014363.6(SACS):c.3159_3160del (p.Leu1053_Phe1054insTer)	rs2137637877
NM_014363.6(SACS):c.4684del (p.Ser1562fs)	rs1275667662
NM_014363.6(SACS):c.5037_5038del (p.Cys1679fs)	rs1868917066
NM_014363.6(SACS):c.5645T>G (p.Leu1882Trp)
NM_014363.6(SACS):c.7634del (p.Met2545fs)
NM_014363.6(SACS):c.8009dup (p.Leu2670fs)
NM_014363.6(SACS):c.9219_9220del (p.Cys3073_Asp3074delinsTer)
NM_014363.6(SACS):c.9346_9354dup (p.Lys3116_Pro3118dup)	rs2137584629
NM_014363.6(SACS):c.9879del (p.Val3294fs)	rs2137580025

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