ClinVar Miner

List of variants reported as uncertain significance for Jeune thoracic dystrophy by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 94
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HGVS dbSNP
NM_001377.3(DYNC2H1):c.*211A>G rs148091830
NM_001377.3(DYNC2H1):c.-33C>T rs547159267
NM_001377.3(DYNC2H1):c.1000-7A>G rs745325616
NM_001377.3(DYNC2H1):c.10043-7T>A rs376067770
NM_001377.3(DYNC2H1):c.10152T>G (p.Ala3384=) rs886047574
NM_001377.3(DYNC2H1):c.10326+6A>G rs750262824
NM_001377.3(DYNC2H1):c.10466G>T (p.Arg3489Leu) rs755858936
NM_001377.3(DYNC2H1):c.10848T>G (p.Ser3616=) rs199958495
NM_001377.3(DYNC2H1):c.10975C>G (p.Gln3659Glu) rs200340319
NM_001377.3(DYNC2H1):c.11679A>C (p.Leu3893Phe) rs748607783
NM_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=) rs144624858
NM_001377.3(DYNC2H1):c.11929A>C (p.Ile3977Leu) rs757571550
NM_001377.3(DYNC2H1):c.11942G>A (p.Arg3981His) rs755554260
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His) rs115480556
NM_001377.3(DYNC2H1):c.12316T>G (p.Leu4106Val) rs139902197
NM_001377.3(DYNC2H1):c.12366+8A>G rs200404815
NM_001377.3(DYNC2H1):c.12389A>G (p.Lys4130Arg) rs368043505
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu) rs142881106
NM_001377.3(DYNC2H1):c.12766-7dup rs747006567
NM_001377.3(DYNC2H1):c.12817A>C (p.Thr4273Pro) rs374409204
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg) rs144717489
NM_001377.3(DYNC2H1):c.196-13T>C rs765533229
NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu) rs189533535
NM_001377.3(DYNC2H1):c.2106+5A>G rs886047560
NM_001377.3(DYNC2H1):c.2244C>T (p.His748=) rs373707570
NM_001377.3(DYNC2H1):c.2385C>G (p.Ile795Met) rs780228819
NM_001377.3(DYNC2H1):c.2470A>G (p.Ile824Val) rs758399640
NM_001377.3(DYNC2H1):c.2479A>G (p.Ile827Val) rs201224700
NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=) rs375307767
NM_001377.3(DYNC2H1):c.266A>G (p.Glu89Gly) rs886047558
NM_001377.3(DYNC2H1):c.291T>A (p.Val97=) rs377529350
NM_001377.3(DYNC2H1):c.2922T>C (p.Ser974=) rs761013187
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=) rs202082545
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His) rs191381310
NM_001377.3(DYNC2H1):c.366+10G>A rs200257097
NM_001377.3(DYNC2H1):c.391G>C (p.Asp131His) rs759690887
NM_001377.3(DYNC2H1):c.4611+14C>T rs766124250
NM_001377.3(DYNC2H1):c.4918T>C (p.Cys1640Arg) rs768540376
NM_001377.3(DYNC2H1):c.4959T>C (p.Tyr1653=) rs201863754
NM_001377.3(DYNC2H1):c.5177G>A (p.Arg1726Gln) rs564701277
NM_001377.3(DYNC2H1):c.5212G>A (p.Gly1738Ser) rs370669724
NM_001377.3(DYNC2H1):c.5335-14A>G rs372488002
NM_001377.3(DYNC2H1):c.5472T>C (p.Leu1824=) rs886047564
NM_001377.3(DYNC2H1):c.5511C>T (p.Asp1837=) rs201953670
NM_001377.3(DYNC2H1):c.5512G>A (p.Ala1838Thr) rs777912444
NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys) rs199541807
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098
NM_001377.3(DYNC2H1):c.6139+7C>T rs200749262
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr) rs201003494
NM_001377.3(DYNC2H1):c.6931A>G (p.Thr2311Ala) rs760509494
NM_001377.3(DYNC2H1):c.7032T>A (p.Arg2344=) rs760382908
NM_001377.3(DYNC2H1):c.7597C>T (p.Arg2533Cys) rs754889986
NM_001377.3(DYNC2H1):c.7782A>G (p.Pro2594=) rs886047566
NM_001377.3(DYNC2H1):c.7840-6dup rs886047567
NM_001377.3(DYNC2H1):c.8102C>T (p.Ala2701Val) rs765998830
NM_001377.3(DYNC2H1):c.8293T>G (p.Phe2765Val) rs199503535
NM_001377.3(DYNC2H1):c.8311+10A>G rs376842066
NM_001377.3(DYNC2H1):c.8351C>T (p.Ser2784Phe) rs886047568
NM_001377.3(DYNC2H1):c.8473A>G (p.Ser2825Gly) rs886047569
NM_001377.3(DYNC2H1):c.8780C>T (p.Thr2927Met) rs752196931
NM_001377.3(DYNC2H1):c.8833-3T>C rs551227065
NM_001377.3(DYNC2H1):c.8946+10A>C rs550521675
NM_001377.3(DYNC2H1):c.9217T>C (p.Ser3073Pro) rs199970220
NM_001377.3(DYNC2H1):c.9231+12G>A rs369045696
NM_001377.3(DYNC2H1):c.9577A>G (p.Ile3193Val) rs886047571
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294
NM_001377.3(DYNC2H1):c.9846T>C (p.Asp3282=) rs886047572
NM_001377.3(DYNC2H1):c.9865G>C (p.Glu3289Gln) rs200326353
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811
NM_020800.2(IFT80):c.-183C>T rs545378240
NM_020800.2(IFT80):c.-243G>A rs559709322
NM_020800.2(IFT80):c.-296G>A rs886058136
NM_020800.2(IFT80):c.-321A>G rs886058137
NM_020800.2(IFT80):c.-376G>C rs886058138
NM_020800.2(IFT80):c.-392T>G rs886058139
NM_020800.2(IFT80):c.-410G>T rs113776466
NM_020800.3(IFT80):c.*1210_*1211TA[8] rs150435844
NM_020800.3(IFT80):c.-31G>A rs886058135
NM_020800.3(IFT80):c.2224-19dup rs58665245
NM_024753.4(TTC21B):c.-107C>T rs545898884
NM_024753.4(TTC21B):c.-75A>C rs886055032
NM_024753.4(TTC21B):c.-82C>G rs543599575
NM_024753.4(TTC21B):c.-89C>G rs868157832
NM_024753.4(TTC21B):c.-91T>C rs772121352
NM_024753.4(TTC21B):c.-94C>T rs563836188
NM_024753.5(TTC21B):c.*1123dup rs886055020
NM_024753.5(TTC21B):c.95G>A (p.Arg32Lys) rs886055028
NM_025132.3(WDR19):c.-59dupT rs558898928
NM_025132.4(WDR19):c.*293_*296dup rs374474677
NM_025132.4(WDR19):c.1134+13T>G rs374615138
NM_025132.4(WDR19):c.1248T>C (p.Asn416=) rs772867899
NM_025132.4(WDR19):c.1249+9A>G rs201377206
NM_025132.4(WDR19):c.2364-15_2364-14del rs555557314
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser) rs545916111

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