ClinVar Miner

List of variants reported as likely pathogenic for Charlevoix-Saguenay spastic ataxia by Mendelics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe)	rs139805032	0.00001
NM_014363.6(SACS):c.562G>A (p.Gly188Arg)	rs780184251	0.00001
NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro)	rs727503785

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