ClinVar Miner

List of variants in gene DYNC1H1 reported as pathogenic for Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant

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Total variants: 5
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NM_001376.5(DYNC1H1):c.1750A>C (p.Ile584Leu) rs387906741
NM_001376.5(DYNC1H1):c.2011A>G (p.Lys671Glu) rs387906742
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001376.5(DYNC1H1):c.2909A>G (p.Tyr970Cys) rs387906743
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738

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