ClinVar Miner

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

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Total variants: 7
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NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) rs371011047
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter) rs1565317399
NM_001377.3(DYNC2H1):c.1855C>T (p.Gln619Ter) rs1260978141
NM_001377.3(DYNC2H1):c.2574+1G>A rs1565329461
NM_001377.3(DYNC2H1):c.5682_5683del (p.His1896fs) rs767846762
NM_001377.3(DYNC2H1):c.729T>A (p.Tyr243Ter) rs1565311145
Single allele

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