ClinVar Miner

List of variants in gene DYNC1H1 reported as uncertain significance for DYNC1H1-related neuronopathy

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.12485G>T (p.Ser4162Ile) rs754437318
NM_001376.5(DYNC1H1):c.1996G>A (p.Glu666Lys) rs2141274838
NM_001376.5(DYNC1H1):c.2721T>G (p.Ile907Met) rs114021657

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