ClinVar Miner

List of variants reported as pathogenic for Jeune thoracic dystrophy by Invitae

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Total variants: 17
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HGVS dbSNP
NC_000003.12:g.(?_160299237)_(160319939_?)del
NM_001080463.1(DYNC2H1):c.7141delG (p.Val2381Tyrfs) rs1160036887
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657
NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter) rs562139820
NM_001377.3(DYNC2H1):c.1141_1150del (p.Trp381fs) rs1555038664
NM_001377.3(DYNC2H1):c.1355_1358del (p.Ile452fs) rs1223907858
NM_001377.3(DYNC2H1):c.1757T>G (p.Val586Gly) rs864622357
NM_001377.3(DYNC2H1):c.2235G>A (p.Trp745Ter) rs1309577378
NM_001377.3(DYNC2H1):c.2702+1G>A rs864622358
NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter) rs754919042
NM_001377.3(DYNC2H1):c.5547del (p.Phe1849fs) rs771003300
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001377.3(DYNC2H1):c.9820-2147G>A rs1565423740
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) rs397514637
NM_020800.3(IFT80):c.1187del (p.Leu396fs)
NM_020800.3(IFT80):c.1961del (p.Asn654fs)
NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter) rs777162250

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