ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP
NM_001080463.1(DYNC2H1):c.[11284A>G;5971A>T]
NM_001080463.1(DYNC2H1):c.[12602C>T;9865G>A]
NM_001377.3(DYNC2H1):c.10001C>G (p.Pro3334Arg) rs1565426918
NM_001377.3(DYNC2H1):c.5771A>T (p.Asp1924Val) rs1565368733
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile) rs431905498
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001377.3(DYNC2H1):c.7129T>G (p.Phe2377Val) rs1565379048
NM_001377.3(DYNC2H1):c.7919T>C (p.Ile2640Thr) rs1265669915
NM_001377.3(DYNC2H1):c.8003T>G (p.Val2668Gly) rs764468030
NM_001377.3(DYNC2H1):c.8444G>A (p.Ser2815Asn) rs1565394254
NM_015531.6(C2CD3):c.5227G>T (p.Gly1743Cys) rs1064793399
NM_015531.6(C2CD3):c.5267G>A (p.Gly1756Glu) rs150291837
NM_015681.5(B9D1):c.467G>C (p.Arg156Pro) rs886038205
NM_025132.4(WDR19):c.3758G>A (p.Cys1253Tyr) rs750716949
NM_025132.4(WDR19):c.56T>G (p.Phe19Cys) rs1247231925
NM_025132.4(WDR19):c.974T>C (p.Leu325Ser) rs1193255568
NM_052873.3(IFT43):c.73C>T (p.Arg25Ter) rs780404339

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