ClinVar Miner

List of variants in gene DYNC2I2 reported as pathogenic for Jeune thoracic dystrophy

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Total variants: 5
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NM_052844.3(DYNC2I2):c.1177G>A (p.Gly393Ser) rs587777096
NM_052844.3(DYNC2I2):c.1480C>T (p.Gln494Ter) rs751323441
NM_052844.3(DYNC2I2):c.1567_1582del (p.Glu523fs) rs1554770453
NM_052844.3(DYNC2I2):c.544C>T (p.Arg182Trp) rs555811074
NM_052844.3(DYNC2I2):c.935T>C (p.Phe312Ser) rs1554771175

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