ClinVar Miner

List of variants in gene DYNC2H1 reported as likely pathogenic for Jeune thoracic dystrophy

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Total variants: 11
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NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu) rs368631447
NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=) rs764926983
NM_001377.3(DYNC2H1):c.11493+2T>A rs1555096711
NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs) rs1555042801
NM_001377.3(DYNC2H1):c.367-2A>G rs1291197898
NM_001377.3(DYNC2H1):c.4379-1G>C rs1555052497
NM_001377.3(DYNC2H1):c.6347+1G>A rs1565371538
NM_001377.3(DYNC2H1):c.6478-16G>A rs376892534
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001377.3(DYNC2H1):c.9820-2A>G rs864622111

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