ClinVar Miner

List of variants studied for Amyotrophic lateral sclerosis type 4 by Solve-RD Consortium

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_015046.7(SETX):c.7112T>C (p.Val2371Ala)
NM_015046.7(SETX):c.879del (p.Phe293fs)

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