ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP
NM_001329943.3(KIAA0586):c.3398del (p.Leu1133fs) rs1566883760
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu) rs368631447
NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=) rs764926983
NM_001377.3(DYNC2H1):c.6478-16G>A rs376892534
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088

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