ClinVar Miner

List of variants reported as likely pathogenic for Jeune thoracic dystrophy by Invitae

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Total variants: 7
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NM_001377.3(DYNC2H1):c.11493+2T>A rs1555096711
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.9820-2A>G rs864622111

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