ClinVar Miner

List of variants in gene DYNC2H1 reported as likely pathogenic by Rare Disease Group, Clinical Genetics, Karolinska Institutet

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu) rs368631447 0.00003
NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=) rs764926983 0.00001
NM_001377.3(DYNC2H1):c.6478-16G>A rs376892534 0.00001
Single allele

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