ClinVar Miner

List of variants in gene DYNC2H1 reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 9
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HGVS dbSNP
NM_001080463.2(DYNC2H1):c.12177+1G>A rs794727944
NM_001080463.2(DYNC2H1):c.5846del (p.Glu1949fs) rs794727595
NM_001080463.2(DYNC2H1):c.8947-1G>T rs727503908
NM_001377.3(DYNC2H1):c.10024C>T (p.Arg3342Ter)
NM_001377.3(DYNC2H1):c.11681C>G (p.Ser3894Ter) rs776315442
NM_001377.3(DYNC2H1):c.1360+2del rs780539887
NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs) rs1555042801
NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs) rs755338872
NM_001377.3(DYNC2H1):c.8145_8146delinsAT (p.Tyr2715_Gln2716delinsTer) rs1565390180

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