ClinVar Miner

List of variants in gene DYNC1H1 reported as likely pathogenic by Genetic Services Laboratory, University of Chicago

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.11183G>C (p.Arg3728Pro) rs797045529
NM_001376.5(DYNC1H1):c.2821G>C (p.Asp941His) rs2141276690
NM_001376.5(DYNC1H1):c.4501A>T (p.Ile1501Phe) rs368821864
NM_001376.5(DYNC1H1):c.6122T>C (p.Met2041Thr) rs1555409836
NM_001376.5(DYNC1H1):c.9959C>T (p.Ala3320Val) rs1555411305

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