ClinVar Miner

List of variants reported as likely pathogenic for Jeune thoracic dystrophy by Dan Cohn Lab,University Of California Los Angeles

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Total variants: 4
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NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs) rs1555042801
NM_024753.5(TTC21B):c.1397C>A (p.Pro466His) rs1453462442
NM_024753.5(TTC21B):c.1495G>A (p.Ala499Thr) rs866222900
NM_024753.5(TTC21B):c.703G>C (p.Ala235Pro) rs150742619

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