ClinVar Miner

List of variants reported as likely pathogenic for Charlevoix-Saguenay spastic ataxia by Natera, Inc.

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter)	rs927804920
NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter)	rs768209419
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)	rs1555251539

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