ClinVar Miner

List of variants reported as uncertain significance for Jeune thoracic dystrophy by Invitae

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ClinVar version:
Total variants: 121
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HGVS dbSNP
NC_000011.10:g.(?_103282179)_(103282229_?)del
NC_000011.10:g.(?_103479075)_(103479273_?)dup
NM_001377.3(DYNC2H1):c.10164T>A (p.Thr3388=)
NM_001377.3(DYNC2H1):c.10199G>A (p.Arg3400Gln) rs775615484
NM_001377.3(DYNC2H1):c.10206+6C>T rs1591478542
NM_001377.3(DYNC2H1):c.10237C>G (p.Pro3413Ala) rs786204223
NM_001377.3(DYNC2H1):c.10433C>A (p.Ser3478Tyr)
NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro) rs200460601
NM_001377.3(DYNC2H1):c.1069T>C (p.Cys357Arg)
NM_001377.3(DYNC2H1):c.10946G>A (p.Arg3649His) rs753691638
NM_001377.3(DYNC2H1):c.11383-5A>G
NM_001377.3(DYNC2H1):c.11493G>A (p.Glu3831=) rs778529441
NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val) rs369614706
NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp) rs201479015
NM_001377.3(DYNC2H1):c.11745G>T (p.Trp3915Cys) rs549891589
NM_001377.3(DYNC2H1):c.12131T>C (p.Leu4044Pro)
NM_001377.3(DYNC2H1):c.12172_12180del (p.His4058_Lys4060del) rs1591686031
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709
NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys) rs755441612
NM_001377.3(DYNC2H1):c.12484G>T (p.Ala4162Ser)
NM_001377.3(DYNC2H1):c.12551G>A (p.Arg4184His) rs200913028
NM_001377.3(DYNC2H1):c.12556G>A (p.Glu4186Lys) rs764491760
NM_001377.3(DYNC2H1):c.12776G>T (p.Gly4259Val) rs368203507
NM_001377.3(DYNC2H1):c.1631C>T (p.Ser544Leu)
NM_001377.3(DYNC2H1):c.1679G>T (p.Arg560Leu)
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe) rs180861816
NM_001377.3(DYNC2H1):c.195+5G>A rs774148120
NM_001377.3(DYNC2H1):c.1966G>A (p.Gly656Arg) rs369040584
NM_001377.3(DYNC2H1):c.2142G>C (p.Gln714His) rs182352825
NM_001377.3(DYNC2H1):c.2533G>C (p.Asp845His) rs879676957
NM_001377.3(DYNC2H1):c.254T>A (p.Val85Glu) rs775389478
NM_001377.3(DYNC2H1):c.2920A>G (p.Ser974Gly)
NM_001377.3(DYNC2H1):c.2del (p.Met1fs)
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His) rs191381310
NM_001377.3(DYNC2H1):c.3337A>G (p.Asn1113Asp)
NM_001377.3(DYNC2H1):c.3419G>T (p.Gly1140Val) rs201043335
NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu) rs201194631
NM_001377.3(DYNC2H1):c.3794G>T (p.Arg1265Leu)
NM_001377.3(DYNC2H1):c.3995T>G (p.Leu1332Arg) rs786204078
NM_001377.3(DYNC2H1):c.4020G>T (p.Gln1340His)
NM_001377.3(DYNC2H1):c.466T>A (p.Leu156Ile) rs765931519
NM_001377.3(DYNC2H1):c.4916C>A (p.Thr1639Lys) rs200239560
NM_001377.3(DYNC2H1):c.5114T>C (p.Leu1705Pro) rs878854166
NM_001377.3(DYNC2H1):c.5152-3A>C rs372549709
NM_001377.3(DYNC2H1):c.5399G>A (p.Gly1800Glu) rs1555056136
NM_001377.3(DYNC2H1):c.5473A>G (p.Ile1825Val) rs201860217
NM_001377.3(DYNC2H1):c.5486T>C (p.Ile1829Thr)
NM_001377.3(DYNC2H1):c.5681A>G (p.Glu1894Gly)
NM_001377.3(DYNC2H1):c.5690T>C (p.Ile1897Thr)
NM_001377.3(DYNC2H1):c.5821G>C (p.Ala1941Pro) rs368058473
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val) rs963717773
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291
NM_001377.3(DYNC2H1):c.6051A>G (p.Gln2017=) rs1261404836
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr) rs201003494
NM_001377.3(DYNC2H1):c.658G>T (p.Val220Phe) rs1565311011
NM_001377.3(DYNC2H1):c.6613C>T (p.Arg2205Cys) rs750689118
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001377.3(DYNC2H1):c.6667T>A (p.Phe2223Ile)
NM_001377.3(DYNC2H1):c.6694G>C (p.Asp2232His) rs1555061008
NM_001377.3(DYNC2H1):c.6697T>C (p.Ser2233Pro) rs375988913
NM_001377.3(DYNC2H1):c.6769G>A (p.Gly2257Ser)
NM_001377.3(DYNC2H1):c.7030C>T (p.Arg2344Cys) rs547419104
NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly) rs1555062849
NM_001377.3(DYNC2H1):c.7492A>G (p.Ile2498Val)
NM_001377.3(DYNC2H1):c.7495C>G (p.Leu2499Val) rs878854167
NM_001377.3(DYNC2H1):c.7607G>A (p.Arg2536His) rs376790555
NM_001377.3(DYNC2H1):c.8102C>T (p.Ala2701Val) rs765998830
NM_001377.3(DYNC2H1):c.8107A>T (p.Ile2703Phe)
NM_001377.3(DYNC2H1):c.8457A>G (p.Ile2819Met) rs1060501431
NM_001377.3(DYNC2H1):c.8585G>A (p.Cys2862Tyr)
NM_001377.3(DYNC2H1):c.8822T>G (p.Val2941Gly)
NM_001377.3(DYNC2H1):c.8989C>T (p.Pro2997Ser) rs762604608
NM_020800.3(IFT80):c.1052C>T (p.Thr351Met)
NM_020800.3(IFT80):c.1079C>T (p.Thr360Met)
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230
NM_020800.3(IFT80):c.1126G>A (p.Val376Ile) rs753617262
NM_020800.3(IFT80):c.1126G>C (p.Val376Leu) rs753617262
NM_020800.3(IFT80):c.1158T>A (p.Phe386Leu)
NM_020800.3(IFT80):c.1208T>G (p.Phe403Cys)
NM_020800.3(IFT80):c.1288G>A (p.Ala430Thr)
NM_020800.3(IFT80):c.1316T>G (p.Ile439Arg)
NM_020800.3(IFT80):c.1342G>A (p.Gly448Arg)
NM_020800.3(IFT80):c.1343G>T (p.Gly448Val)
NM_020800.3(IFT80):c.1376A>G (p.His459Arg)
NM_020800.3(IFT80):c.1381-6T>A
NM_020800.3(IFT80):c.1413A>C (p.Lys471Asn)
NM_020800.3(IFT80):c.1495G>A (p.Glu499Lys)
NM_020800.3(IFT80):c.1546G>A (p.Asp516Asn)
NM_020800.3(IFT80):c.1753A>T (p.Ile585Leu) rs864622337
NM_020800.3(IFT80):c.1771A>G (p.Ile591Val) rs142518115
NM_020800.3(IFT80):c.1836+5T>C
NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln) rs150370681
NM_020800.3(IFT80):c.1910A>G (p.Tyr637Cys)
NM_020800.3(IFT80):c.1954A>G (p.Ile652Val) rs779103873
NM_020800.3(IFT80):c.2100G>C (p.Arg700Ser)
NM_020800.3(IFT80):c.2116G>A (p.Val706Ile)
NM_020800.3(IFT80):c.2149G>A (p.Ala717Thr) rs370294182
NM_020800.3(IFT80):c.2179G>A (p.Gly727Ser) rs977361551
NM_020800.3(IFT80):c.2200C>T (p.Arg734Ter) rs375941259
NM_020800.3(IFT80):c.2223+4_2223+7del rs751433239
NM_020800.3(IFT80):c.2225T>A (p.Leu742His)
NM_020800.3(IFT80):c.2245A>G (p.Ile749Val)
NM_020800.3(IFT80):c.239_250delinsGGGTTT (p.Phe80_Ser84delinsTrpValCys)
NM_020800.3(IFT80):c.266T>C (p.Phe89Ser)
NM_020800.3(IFT80):c.332C>T (p.Ala111Val)
NM_020800.3(IFT80):c.335G>A (p.Gly112Glu)
NM_020800.3(IFT80):c.371T>C (p.Val124Ala)
NM_020800.3(IFT80):c.511A>G (p.Ile171Val)
NM_020800.3(IFT80):c.571A>G (p.Ile191Val)
NM_020800.3(IFT80):c.599A>G (p.Asn200Ser)
NM_020800.3(IFT80):c.640G>A (p.Val214Ile)
NM_020800.3(IFT80):c.658C>T (p.Arg220Cys)
NM_020800.3(IFT80):c.698C>A (p.Thr233Asn)
NM_020800.3(IFT80):c.707C>T (p.Ala236Val) rs774857269
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478
NM_020800.3(IFT80):c.758G>A (p.Arg253His)
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) rs138081429
NM_020800.3(IFT80):c.895G>A (p.Val299Met)
NM_020800.3(IFT80):c.938C>T (p.Thr313Met) rs753478409
NM_020800.3(IFT80):c.952A>T (p.Met318Leu)
NM_020800.3(IFT80):c.956A>G (p.Gln319Arg)

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