ClinVar Miner

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

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Total variants: 33
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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_001329943.3(KIAA0586):c.3398del (p.Leu1133fs) rs1566883760
NM_001377.3(DYNC2H1):c.10001C>G (p.Pro3334Arg) rs1565426918
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.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.5771A>T (p.Asp1924Val) rs1565368733
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile) rs431905498
NM_001377.3(DYNC2H1):c.6478-16G>A rs376892534
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.729T>A (p.Tyr243Ter) rs1565311145
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_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) rs746068882
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.3868_3871del (p.Thr1290fs) rs747165335
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
Single allele

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