ClinVar Miner

List of variants reported as likely pathogenic for Jeune thoracic dystrophy

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Total variants: 17
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HGVS dbSNP
NC_000011.9:g.(?_103173802)_(103187369_?)del
NM_001329943.3(KIAA0586):c.3398del (p.Leu1133fs) rs1566883760
NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=) rs764926983
NM_001377.3(DYNC2H1):c.11493+2T>A rs1555096711
NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs) rs1555042801
NM_001377.3(DYNC2H1):c.4379-1G>C rs1555052497
NM_001377.3(DYNC2H1):c.6347+1G>A rs1565371538
NM_001377.3(DYNC2H1):c.6478-16G>A rs376892534
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001377.3(DYNC2H1):c.9820-2A>G rs864622111
NM_014053.4(FLVCR1):c.87G>C (p.Ala29=) rs1558104145
NM_014055.4(IFT81):c.1534C>T (p.Arg512Ter) rs200335504
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088
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
NM_024755.4(SLTM):c.2600C>A (p.Pro867His) rs1401798992

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