ClinVar Miner

List of variants reported as pathogenic for Jeune thoracic dystrophy by Rare Disease Group, Clinical Genetics,Karolinska Institutet

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Total variants: 10
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HGVS dbSNP
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) rs371011047
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter) rs1565317399
NM_001377.3(DYNC2H1):c.1855C>T (p.Gln619Ter) rs1260978141
NM_001377.3(DYNC2H1):c.2386del (p.Arg796fs) rs765454943
NM_001377.3(DYNC2H1):c.2574+1G>A rs1565329461
NM_001377.3(DYNC2H1):c.5682_5683del (p.His1896fs) rs767846762
NM_001377.3(DYNC2H1):c.729T>A (p.Tyr243Ter) rs1565311145
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) rs746068882
NM_025132.4(WDR19):c.3868_3871del (p.Thr1290fs) rs747165335
Single allele

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