ClinVar Miner

List of variants reported as not provided for Charlevoix-Saguenay spastic ataxia by GenomeConnect, ClinGen

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)	rs147099630	0.00521
NM_014363.6(SACS):c.5917A>G (p.Lys1973Glu)
NM_014363.6(SACS):c.8487G>A (p.Met2829Ile)	rs1566062847

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