ClinVar Miner

List of variants in gene DYNC2H1 reported as pathogenic for Jeune thoracic dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 320
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969 0.00442
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00178
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941 0.00078
NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro) rs200460601 0.00035
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His) rs200614421 0.00018
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657 0.00014
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr) rs552436294 0.00011
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His) rs770380730 0.00006
NM_001377.3(DYNC2H1):c.8012T>C (p.Met2671Thr) rs1196317554 0.00006
NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile) rs771511132 0.00005
NM_001377.3(DYNC2H1):c.10100G>A (p.Arg3367His) rs759549373 0.00004
NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val) rs369614706 0.00004
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu) rs368631447 0.00003
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg) rs758727391 0.00003
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709 0.00003
NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys) rs755441612 0.00003
NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly) rs368654019 0.00003
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) rs371011047 0.00003
NM_001377.3(DYNC2H1):c.2549T>A (p.Leu850Ter) rs1205610948 0.00003
NM_001377.3(DYNC2H1):c.3719T>C (p.Ile1240Thr) rs137853028 0.00003
NM_001377.3(DYNC2H1):c.5808del (p.Glu1935_Tyr1936insTer) rs775759098 0.00003
NM_001377.3(DYNC2H1):c.5972T>A (p.Met1991Lys) rs1202784860 0.00003
NM_001377.3(DYNC2H1):c.7784A>G (p.His2595Arg) rs755505546 0.00003
NM_001377.3(DYNC2H1):c.9353+1G>A rs776407305 0.00003
NM_001377.3(DYNC2H1):c.9565C>T (p.Gln3189Ter) rs373924400 0.00003
NM_001377.3(DYNC2H1):c.10024C>T (p.Arg3342Ter) rs751891969 0.00002
NM_001377.3(DYNC2H1):c.10042+2T>G rs1261505725 0.00002
NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter) rs562139820 0.00002
NM_001377.3(DYNC2H1):c.11681C>G (p.Ser3894Ter) rs776315442 0.00002
NM_001377.3(DYNC2H1):c.1360+2del rs780539887 0.00002
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys) rs745870321 0.00002
NM_001377.3(DYNC2H1):c.4909G>T (p.Asp1637Tyr) rs771639486 0.00002
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met) rs751030969 0.00002
NM_001377.3(DYNC2H1):c.5176C>T (p.Arg1726Ter) rs772321133 0.00002
NM_001377.3(DYNC2H1):c.5547del (p.Phe1849fs) rs771003300 0.00002
NM_001377.3(DYNC2H1):c.7277G>T (p.Arg2426Leu) rs373521030 0.00002
NM_001377.3(DYNC2H1):c.7435C>T (p.Gln2479Ter) rs200989423 0.00002
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter) rs137853032 0.00002
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) rs397514637 0.00002
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446 0.00001
NM_001377.3(DYNC2H1):c.10606-14A>G rs989023092 0.00001
NM_001377.3(DYNC2H1):c.10729C>T (p.Arg3577Ter) rs373536938 0.00001
NM_001377.3(DYNC2H1):c.1078C>T (p.Arg360Ter) rs764769351 0.00001
NM_001377.3(DYNC2H1):c.12199C>T (p.Arg4067Ter) rs376596919 0.00001
NM_001377.3(DYNC2H1):c.12393G>A (p.Trp4131Ter) rs1428945272 0.00001
NM_001377.3(DYNC2H1):c.1243C>T (p.Gln415Ter) rs777277500 0.00001
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter) rs1565317399 0.00001
NM_001377.3(DYNC2H1):c.1678C>T (p.Arg560Ter) rs925675970 0.00001
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys) rs137853030 0.00001
NM_001377.3(DYNC2H1):c.2235G>A (p.Trp745Ter) rs1309577378 0.00001
NM_001377.3(DYNC2H1):c.2343C>G (p.Tyr781Ter) rs1266078341 0.00001
NM_001377.3(DYNC2H1):c.2992C>T (p.Arg998Ter) rs756008276 0.00001
NM_001377.3(DYNC2H1):c.3059T>G (p.Leu1020Ter) rs373335226 0.00001
NM_001377.3(DYNC2H1):c.3076C>T (p.Gln1026Ter) rs765224364 0.00001
NM_001377.3(DYNC2H1):c.3145C>T (p.Gln1049Ter) rs370490151 0.00001
NM_001377.3(DYNC2H1):c.327C>G (p.Tyr109Ter) rs755305630 0.00001
NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs) rs755338872 0.00001
NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp) rs745569868 0.00001
NM_001377.3(DYNC2H1):c.3509T>G (p.Leu1170Ter) rs1289864888 0.00001
NM_001377.3(DYNC2H1):c.3859C>T (p.Arg1287Ter) rs756002632 0.00001
NM_001377.3(DYNC2H1):c.3984G>A (p.Trp1328Ter) rs1448805941 0.00001
NM_001377.3(DYNC2H1):c.4496G>A (p.Trp1499Ter) rs1262807447 0.00001
NM_001377.3(DYNC2H1):c.4870_4871del (p.Trp1624fs) rs2497128760 0.00001
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val) rs963717773 0.00001
NM_001377.3(DYNC2H1):c.6043C>T (p.Arg2015Ter) rs1219437391 0.00001
NM_001377.3(DYNC2H1):c.6140-5A>G rs1362562605 0.00001
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031 0.00001
NM_001377.3(DYNC2H1):c.6808C>T (p.Arg2270Ter) rs755442994 0.00001
NM_001377.3(DYNC2H1):c.6973C>T (p.Arg2325Ter) rs1402847477 0.00001
NM_001377.3(DYNC2H1):c.7079del (p.Asp2360fs) rs1370785518 0.00001
NM_001377.3(DYNC2H1):c.7156G>T (p.Gly2386Ter) rs1306497806 0.00001
NM_001377.3(DYNC2H1):c.739C>T (p.Arg247Ter) rs561778796 0.00001
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter) rs537704873 0.00001
NM_001377.3(DYNC2H1):c.7663G>A (p.Val2555Met) rs746195428 0.00001
NM_001377.3(DYNC2H1):c.767-2A>G rs762873763 0.00001
NM_001377.3(DYNC2H1):c.7945G>T (p.Gly2649Cys) rs758155107 0.00001
NM_001377.3(DYNC2H1):c.8050G>T (p.Gly2684Ter) rs747857715 0.00001
NM_001377.3(DYNC2H1):c.8197G>T (p.Gly2733Cys) rs969015057 0.00001
NM_001377.3(DYNC2H1):c.8311+1G>A rs1555068270 0.00001
NM_001377.3(DYNC2H1):c.8457A>G (p.Ile2819Met) rs1060501431 0.00001
NM_001377.3(DYNC2H1):c.8611C>T (p.Arg2871Ter) rs1296847728 0.00001
NM_001377.3(DYNC2H1):c.9844G>A (p.Asp3282Asn) rs780600124 0.00001
NM_001377.3(DYNC2H1):c.9870G>A (p.Trp3290Ter) rs1445220590 0.00001
NC_000011.10:g.103188497del rs1160036887
NC_000011.9:g.(?_103036607)_(103036797_?)del
NC_000011.9:g.(?_103039464)_(103041817_?)del
NC_000011.9:g.(?_103055605)_(103063013_?)del
NC_000011.9:g.(?_103090624)_(103092902_?)del
NC_000011.9:g.(?_103112236)_(103116123_?)del
NC_000011.9:g.(?_103115960)_(103116123_?)del
NC_000011.9:g.(?_103123994)_(103124197_?)del
NC_000011.9:g.(?_103126124)_(103128500_?)del
NC_000011.9:g.(?_103128360)_(103282954_?)del
NC_000011.9:g.(?_103151057)_(103349981_?)del
NC_000011.9:g.(?_103173802)_(103349981_?)del
NC_000011.9:g.(?_103191738)_(103339453_?)del
NC_000011.9:g.(?_103228951)_(103349981_?)del
NC_000011.9:g.(?_103270371)_(103306780_?)del
NC_000011.9:g.(?_103270371)_(103349981_?)del
NC_000011.9:g.(?_103306651)_(103349981_?)del
NC_000011.9:g.(?_103325894)_(103349981_?)del
NC_000011.9:g.(?_103349803)_(103349981_?)del
NM_001080463.2(DYNC2H1):c.9839G>A (p.Trp3280Ter) rs1565423740
NM_001377.3(DYNC2H1):c.10039C>T (p.Gln3347Ter) rs1043453967
NM_001377.3(DYNC2H1):c.10042+1G>A rs756453245
NM_001377.3(DYNC2H1):c.10099C>T (p.Arg3367Cys) rs200710887
NM_001377.3(DYNC2H1):c.10105T>C (p.Phe3369Leu) rs1555081345
NM_001377.3(DYNC2H1):c.10109del (p.Leu3370fs) rs431905500
NM_001377.3(DYNC2H1):c.10134del (p.Phe3378fs)
NM_001377.3(DYNC2H1):c.10144del (p.Asp3382fs) rs751621733
NM_001377.3(DYNC2H1):c.10196T>A (p.Leu3399Ter) rs2496626872
NM_001377.3(DYNC2H1):c.10204C>T (p.Gln3402Ter)
NM_001377.3(DYNC2H1):c.10252C>T (p.Gln3418Ter) rs543525711
NM_001377.3(DYNC2H1):c.10268del (p.Leu3423fs) rs2496639536
NM_001377.3(DYNC2H1):c.10270C>T (p.Gln3424Ter) rs1258635215
NM_001377.3(DYNC2H1):c.10294C>T (p.Gln3432Ter) rs867836657
NM_001377.3(DYNC2H1):c.10333dup (p.Ala3445fs) rs2496644540
NM_001377.3(DYNC2H1):c.10342C>T (p.Gln3448Ter) rs1865048329
NM_001377.3(DYNC2H1):c.10429G>T (p.Glu3477Ter) rs2496645400
NM_001377.3(DYNC2H1):c.10559T>A (p.Leu3520Ter)
NM_001377.3(DYNC2H1):c.10645dup (p.Ser3549fs) rs2496662893
NM_001377.3(DYNC2H1):c.10690_10693del (p.Phe3564fs) rs2496663439
NM_001377.3(DYNC2H1):c.10771del (p.Thr3591fs) rs2496764052
NM_001377.3(DYNC2H1):c.10798_10799del (p.Met3600fs) rs1565459834
NM_001377.3(DYNC2H1):c.10822C>T (p.Gln3608Ter) rs1866204293
NM_001377.3(DYNC2H1):c.10828dup (p.Ile3610fs) rs766275230
NM_001377.3(DYNC2H1):c.10837C>T (p.Gln3613Ter) rs2496768592
NM_001377.3(DYNC2H1):c.10864C>T (p.Arg3622Ter) rs117178504
NM_001377.3(DYNC2H1):c.10900C>T (p.Pro3634Ser) rs769053227
NM_001377.3(DYNC2H1):c.10918del (p.Leu3640fs) rs759649136
NM_001377.3(DYNC2H1):c.11230G>T (p.Glu3744Ter) rs1340269679
NM_001377.3(DYNC2H1):c.11293C>T (p.Gln3765Ter) rs755672814
NM_001377.3(DYNC2H1):c.11336T>A (p.Leu3779Ter)
NM_001377.3(DYNC2H1):c.11364G>A (p.Trp3788Ter) rs2496867892
NM_001377.3(DYNC2H1):c.1141_1150del (p.Trp381fs) rs1555038664
NM_001377.3(DYNC2H1):c.11446_11447del (p.Asn3816fs) rs2496881754
NM_001377.3(DYNC2H1):c.11597del (p.Ser3866fs) rs1555098222
NM_001377.3(DYNC2H1):c.11606G>A (p.Trp3869Ter) rs2496903018
NM_001377.3(DYNC2H1):c.11621del (p.Cys3874fs) rs2496903151
NM_001377.3(DYNC2H1):c.11636del (p.Asn3879fs) rs2496903379
NM_001377.3(DYNC2H1):c.11659_11660del (p.Lys3887fs) rs2496922131
NM_001377.3(DYNC2H1):c.11667T>G (p.Tyr3889Ter) rs1937856263
NM_001377.3(DYNC2H1):c.11697dup (p.Tyr3900fs) rs2496922607
NM_001377.3(DYNC2H1):c.11713_11716del (p.Arg3905fs) rs1453448143
NM_001377.3(DYNC2H1):c.11762T>A (p.Leu3921Ter) rs2496941904
NM_001377.3(DYNC2H1):c.11895dup (p.Pro3966fs) rs1310779676
NM_001377.3(DYNC2H1):c.11915del (p.Pro3972fs) rs2135437962
NM_001377.3(DYNC2H1):c.1195dup (p.Ile399fs) rs1187668418
NM_001377.3(DYNC2H1):c.1206dup (p.Leu403fs)
NM_001377.3(DYNC2H1):c.12156+1G>T rs794727944
NM_001377.3(DYNC2H1):c.12169del (p.Ile4057fs) rs1438015268
NM_001377.3(DYNC2H1):c.1231C>T (p.Gln411Ter) rs747358182
NM_001377.3(DYNC2H1):c.12415C>T (p.Gln4139Ter) rs2497444581
NM_001377.3(DYNC2H1):c.12462G>A (p.Trp4154Ter) rs1047872625
NM_001377.3(DYNC2H1):c.12466_12469del (p.Asp4156fs) rs766816050
NM_001377.3(DYNC2H1):c.12477_12489del (p.Glu4159fs) rs2497538753
NM_001377.3(DYNC2H1):c.12480dup (p.Gln4161fs) rs2497538745
NM_001377.3(DYNC2H1):c.12512C>A (p.Ser4171Ter) rs1379977343
NM_001377.3(DYNC2H1):c.12695T>G (p.Leu4232Arg) rs1945272232
NM_001377.3(DYNC2H1):c.12728C>G (p.Ser4243Ter)
NM_001377.3(DYNC2H1):c.12763C>T (p.Gln4255Ter) rs2135849050
NM_001377.3(DYNC2H1):c.12806T>C (p.Leu4269Ser) rs1555143920
NM_001377.3(DYNC2H1):c.1355_1358del (p.Ile452fs) rs1223907858
NM_001377.3(DYNC2H1):c.1366C>T (p.Arg456Ter) rs867798254
NM_001377.3(DYNC2H1):c.1408_1418del (p.Ala470fs) rs2496827409
NM_001377.3(DYNC2H1):c.1614G>A (p.Trp538Ter) rs1858795121
NM_001377.3(DYNC2H1):c.1657_1660del (p.Leu553fs) rs748906528
NM_001377.3(DYNC2H1):c.1757T>G (p.Val586Gly) rs864622357
NM_001377.3(DYNC2H1):c.1854_1857del (p.Gln619fs)
NM_001377.3(DYNC2H1):c.1855C>T (p.Gln619Ter) rs1260978141
NM_001377.3(DYNC2H1):c.1864del (p.His622fs) rs1591283716
NM_001377.3(DYNC2H1):c.1903C>T (p.Gln635Ter) rs2496875947
NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=) rs1178331074
NM_001377.3(DYNC2H1):c.1963del (p.Ala655fs)
NM_001377.3(DYNC2H1):c.1966G>T (p.Gly656Ter) rs369040584
NM_001377.3(DYNC2H1):c.2008G>T (p.Glu670Ter) rs750682546
NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs) rs1555042801
NM_001377.3(DYNC2H1):c.2077A>T (p.Arg693Ter) rs756811933
NM_001377.3(DYNC2H1):c.2089del (p.Thr697fs) rs2496903775
NM_001377.3(DYNC2H1):c.2140C>T (p.Gln714Ter) rs2134773913
NM_001377.3(DYNC2H1):c.2203C>T (p.Gln735Ter) rs2496909934
NM_001377.3(DYNC2H1):c.2225T>G (p.Met742Arg) rs774610143
NM_001377.3(DYNC2H1):c.2247G>A (p.Trp749Ter) rs572266444
NM_001377.3(DYNC2H1):c.2341T>G (p.Tyr781Asp) rs1555043520
NM_001377.3(DYNC2H1):c.2353C>T (p.Arg785Ter) rs755883373
NM_001377.3(DYNC2H1):c.2386del (p.Arg796fs) rs765454943
NM_001377.3(DYNC2H1):c.2574+1G>A rs1565329461
NM_001377.3(DYNC2H1):c.2692C>T (p.Arg898Ter) rs1007294927
NM_001377.3(DYNC2H1):c.2702+1G>A rs864622358
NM_001377.3(DYNC2H1):c.2736C>A (p.Cys912Ter) rs763317497
NM_001377.3(DYNC2H1):c.2770C>T (p.Gln924Ter) rs2497001200
NM_001377.3(DYNC2H1):c.2818+1G>C rs1591316134
NM_001377.3(DYNC2H1):c.2981del (p.Asn994fs) rs1202610425
NM_001377.3(DYNC2H1):c.298_299del (p.Met100fs) rs2496767276
NM_001377.3(DYNC2H1):c.2990del (p.Leu997fs) rs1446166328
NM_001377.3(DYNC2H1):c.3095del (p.Gln1032fs) rs1555049536
NM_001377.3(DYNC2H1):c.3159del (p.Lys1053fs) rs2497038573
NM_001377.3(DYNC2H1):c.3262dup (p.Ile1088fs) rs767206815
NM_001377.3(DYNC2H1):c.3443_3446dup (p.Trp1149Ter) rs2497047713
NM_001377.3(DYNC2H1):c.3498G>A (p.Trp1166Ter) rs1860732977
NM_001377.3(DYNC2H1):c.3523del (p.Glu1175fs) rs2497049476
NM_001377.3(DYNC2H1):c.3793_3794insA (p.Arg1265fs) rs2497060831
NM_001377.3(DYNC2H1):c.3812del (p.Gly1271fs) rs1565350595
NM_001377.3(DYNC2H1):c.4009G>T (p.Glu1337Ter) rs2497062759
NM_001377.3(DYNC2H1):c.4018C>T (p.Gln1340Ter) rs2497062855
NM_001377.3(DYNC2H1):c.4098dup (p.Arg1367fs) rs2497063654
NM_001377.3(DYNC2H1):c.4162_4170dup (p.Val1388_Thr1390dup) rs1555051720
NM_001377.3(DYNC2H1):c.4219C>T (p.Gln1407Ter) rs1395482031
NM_001377.3(DYNC2H1):c.4241C>G (p.Ser1414Ter) rs1288124721
NM_001377.3(DYNC2H1):c.4256dup (p.Leu1419fs) rs2497074414
NM_001377.3(DYNC2H1):c.4328del (p.Gln1443fs) rs2134908680
NM_001377.3(DYNC2H1):c.4395_4399del (p.Cys1465_Asp1467delinsTer) rs2497086708
NM_001377.3(DYNC2H1):c.4418T>C (p.Ile1473Thr) rs1555052511
NM_001377.3(DYNC2H1):c.4458del (p.Phe1486fs) rs1555052524
NM_001377.3(DYNC2H1):c.4472_4473insGGCCGGGCGCGGTGGCTCTCGCCTGTAGTCCCAGCTCATAGGGACGAACCGGCGAGCGTCGCGTCCGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATAAAGTTCC (p.Pro1491_Leu1492insAlaGlyArgGlyGlySerArgLeuTer)
NM_001377.3(DYNC2H1):c.4484_4488del (p.Asn1495fs)
NM_001377.3(DYNC2H1):c.448C>T (p.Arg150Ter) rs1187379488
NM_001377.3(DYNC2H1):c.4537C>T (p.Gln1513Ter) rs2497097522
NM_001377.3(DYNC2H1):c.4553G>A (p.Cys1518Tyr) rs1555053115
NM_001377.3(DYNC2H1):c.4625_4627del (p.Ala1542del) rs2497112470
NM_001377.3(DYNC2H1):c.4678_4679insGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGATCATAGTC (p.Ser1559_Leu1560insArgArgSerGlnAspGlyArgIleGlyThrAlaProValTyrSerSerGlnArgGluArgArgArgArgArgXaaXaaXaaXaaLysLysLysLysLysLysLysAspHisSer) rs2497112808
NM_001377.3(DYNC2H1):c.4698del (p.Gln1566fs) rs1565359085
NM_001377.3(DYNC2H1):c.4699C>G (p.Leu1567Val) rs901629870
NM_001377.3(DYNC2H1):c.4724del (p.Thr1575fs) rs1243716539
NM_001377.3(DYNC2H1):c.4843del (p.Gln1615fs)
NM_001377.3(DYNC2H1):c.4877G>A (p.Trp1626Ter)
NM_001377.3(DYNC2H1):c.499C>T (p.Arg167Ter) rs755464335
NM_001377.3(DYNC2H1):c.5047del (p.Gly1684fs) rs1322549762
NM_001377.3(DYNC2H1):c.5125C>T (p.Gln1709Ter) rs1861514878
NM_001377.3(DYNC2H1):c.5151+1G>C
NM_001377.3(DYNC2H1):c.5291dup (p.Leu1765fs) rs1414601779
NM_001377.3(DYNC2H1):c.5304_5305del (p.His1768fs) rs2497141506
NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter) rs754919042
NM_001377.3(DYNC2H1):c.5507_5508del (p.Lys1836fs) rs2497153111
NM_001377.3(DYNC2H1):c.5527A>T (p.Arg1843Ter) rs2497153382
NM_001377.3(DYNC2H1):c.5558+2T>C rs762666243
NM_001377.3(DYNC2H1):c.5586T>A (p.Tyr1862Ter)
NM_001377.3(DYNC2H1):c.5612del (p.Thr1871fs) rs1555056464
NM_001377.3(DYNC2H1):c.5643_5646del (p.Arg1881fs) rs2497158423
NM_001377.3(DYNC2H1):c.5682_5683del (p.His1896fs) rs767846762
NM_001377.3(DYNC2H1):c.5797_5798del (p.Glu1933fs) rs1565368793
NM_001377.3(DYNC2H1):c.5846del (p.Glu1949fs) rs794727595
NM_001377.3(DYNC2H1):c.5882dup (p.Ala1962fs) rs1861877403
NM_001377.3(DYNC2H1):c.5925del (p.Val1976fs) rs1380132788
NM_001377.3(DYNC2H1):c.6099_6102dup (p.Thr2035fs) rs2496236257
NM_001377.3(DYNC2H1):c.6149C>G (p.Ser2050Ter) rs768951961
NM_001377.3(DYNC2H1):c.6161G>C (p.Cys2054Ser) rs1555057838
NM_001377.3(DYNC2H1):c.6220C>T (p.Arg2074Ter) rs2496243325
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile) rs431905498
NM_001377.3(DYNC2H1):c.6265A>G (p.Asn2089Asp) rs753662982
NM_001377.3(DYNC2H1):c.6386_6393del (p.Ser2128_Trp2129insTer) rs2496256527
NM_001377.3(DYNC2H1):c.6485_6486del (p.Tyr2162fs) rs2496272489
NM_001377.3(DYNC2H1):c.6645G>A (p.Trp2215Ter) rs2496279393
NM_001377.3(DYNC2H1):c.6649C>T (p.Arg2217Ter) rs756087785
NM_001377.3(DYNC2H1):c.6703del (p.Arg2235fs) rs2496279887
NM_001377.3(DYNC2H1):c.6709C>T (p.Arg2237Ter) rs763241302
NM_001377.3(DYNC2H1):c.6751del (p.Ala2251fs) rs2496280307
NM_001377.3(DYNC2H1):c.6790C>T (p.Gln2264Ter) rs764720647
NM_001377.3(DYNC2H1):c.6875dup (p.Glu2293fs) rs2496281483
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001377.3(DYNC2H1):c.7053_7054del (p.Cys2351_Glu2352delinsTer) rs2496288376
NM_001377.3(DYNC2H1):c.7057del (p.Arg2353fs) rs2496288415
NM_001377.3(DYNC2H1):c.7130del (p.Phe2377fs) rs779004079
NM_001377.3(DYNC2H1):c.7243_7244insTT (p.His2415fs) rs2496295808
NM_001377.3(DYNC2H1):c.7284T>A (p.Cys2428Ter) rs770936919
NM_001377.3(DYNC2H1):c.729T>A (p.Tyr243Ter) rs1565311145
NM_001377.3(DYNC2H1):c.7309C>T (p.Gln2437Ter)
NM_001377.3(DYNC2H1):c.7343del (p.Pro2448fs) rs2496303443
NM_001377.3(DYNC2H1):c.7380G>A (p.Trp2460Ter) rs921573478
NM_001377.3(DYNC2H1):c.7501C>T (p.Gln2501Ter)
NM_001377.3(DYNC2H1):c.7527T>A (p.Tyr2509Ter) rs1322369710
NM_001377.3(DYNC2H1):c.7527T>G (p.Tyr2509Ter) rs1322369710
NM_001377.3(DYNC2H1):c.7630del (p.Glu2544fs) rs2496318039
NM_001377.3(DYNC2H1):c.773C>A (p.Ser258Ter) rs2496799241
NM_001377.3(DYNC2H1):c.7741_7744del (p.Asn2581fs) rs1565388092
NM_001377.3(DYNC2H1):c.7786G>T (p.Gly2596Ter) rs2496345285
NM_001377.3(DYNC2H1):c.7858C>T (p.Arg2620Ter) rs1322141600
NM_001377.3(DYNC2H1):c.7894G>T (p.Glu2632Ter) rs1862623631
NM_001377.3(DYNC2H1):c.7903G>T (p.Glu2635Ter) rs1862623916
NM_001377.3(DYNC2H1):c.7909_7910del (p.Met2637fs) rs1862624167
NM_001377.3(DYNC2H1):c.7923_7926del (p.Asp2641fs) rs1565389359
NM_001377.3(DYNC2H1):c.8145_8146delinsAT (p.Tyr2715_Gln2716delinsTer) rs1565390180
NM_001377.3(DYNC2H1):c.8146C>T (p.Gln2716Ter)
NM_001377.3(DYNC2H1):c.8227G>T (p.Glu2743Ter) rs2496371393
NM_001377.3(DYNC2H1):c.8301C>G (p.Tyr2767Ter)
NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter) rs1437320571
NM_001377.3(DYNC2H1):c.8420G>A (p.Trp2807Ter)
NM_001377.3(DYNC2H1):c.8434del (p.Ser2812fs) rs1555068636
NM_001377.3(DYNC2H1):c.8458_8461delinsACCT (p.Pro2820_Glu2821delinsThrTer)
NM_001377.3(DYNC2H1):c.8505dup (p.Lys2836Ter)
NM_001377.3(DYNC2H1):c.8517del (p.Glu2840fs) rs2496401454
NM_001377.3(DYNC2H1):c.8534del (p.Asn2845fs) rs431905507
NM_001377.3(DYNC2H1):c.8534dup (p.Asn2845fs) rs431905507
NM_001377.3(DYNC2H1):c.8557A>T (p.Lys2853Ter) rs2496410325
NM_001377.3(DYNC2H1):c.8590del (p.Ala2864fs) rs1555070451
NM_001377.3(DYNC2H1):c.8669T>A (p.Leu2890Ter) rs2496411251
NM_001377.3(DYNC2H1):c.874G>T (p.Glu292Ter)
NM_001377.3(DYNC2H1):c.8769_8770del (p.Leu2924fs) rs1555071503
NM_001377.3(DYNC2H1):c.8909_8910del (p.Arg2970fs) rs2496449422
NM_001377.3(DYNC2H1):c.8917_8921del (p.Asn2972_Lys2973insTer)
NM_001377.3(DYNC2H1):c.9045T>G (p.Asp3015Glu) rs794727767
NM_001377.3(DYNC2H1):c.9167C>G (p.Ser3056Ter) rs2496461164
NM_001377.3(DYNC2H1):c.9292C>T (p.Gln3098Ter) rs1408863024
NM_001377.3(DYNC2H1):c.9310G>T (p.Glu3104Ter) rs756567847
NM_001377.3(DYNC2H1):c.9382del (p.Arg3128fs) rs1287001939
NM_001377.3(DYNC2H1):c.940T>C (p.Trp314Arg) rs2496801836
NM_001377.3(DYNC2H1):c.9421del (p.Val3141fs) rs758391090
NM_001377.3(DYNC2H1):c.9436_9439del (p.Glu3146fs) rs2496509129
NM_001377.3(DYNC2H1):c.9493del (p.Ala3165fs) rs780243284
NM_001377.3(DYNC2H1):c.9760_9764del (p.Trp3253_Lys3254insTer) rs1218198013
NM_001377.3(DYNC2H1):c.9823C>T (p.Arg3275Ter) rs2135225617
NM_001377.3(DYNC2H1):c.9882_9894del (p.Leu3295fs) rs2496576481
NM_001377.3(DYNC2H1):c.9893C>A (p.Ser3298Ter) rs867777631
NM_001377.3(DYNC2H1):c.9956del (p.Arg3319fs) rs1864570703
NM_001377.3(DYNC2H1):c.9992del (p.Gly3331fs) rs2496585568
Single allele

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