ClinVar Miner

List of variants reported as likely benign for Jeune thoracic dystrophy by Illumina Clinical Services Laboratory,Illumina

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Total variants: 17
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HGVS dbSNP
NM_001377.3(DYNC2H1):c.*265C>T rs78537620
NM_001377.3(DYNC2H1):c.-94G>T rs114993913
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=) rs151056947
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln) rs17099969
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=) rs17301028
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=) rs77738279
NM_001377.3(DYNC2H1):c.2818+13T>C rs150786504
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170
NM_001377.3(DYNC2H1):c.5558+4A>G rs11225578
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=) rs116574613
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610
NM_020800.3(IFT80):c.2224-10del rs58665245
NM_024753.5(TTC21B):c.2569-10dup rs144600502

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