ClinVar Miner

List of variants in gene DYNC2H1 reported as pathogenic for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 340
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969 0.00476
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291 0.00090
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.10198C>T (p.Arg3400Ter) rs943680446 0.00016
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657 0.00014
NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp) rs201479015 0.00013
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.5808del (p.Glu1935_Tyr1936insTer) rs775759098 0.00005
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.12829A>G (p.Arg4277Gly) rs368654019 0.00004
NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys) rs775426647 0.00004
NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln) rs781326398 0.00004
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_001377.3(DYNC2H1):c.8145C>A (p.Tyr2715Ter) rs371940321 0.00004
NM_001377.3(DYNC2H1):c.10042G>T (p.Gly3348Ter) rs137853029 0.00003
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.1151C>T (p.Ala384Val) rs369614706 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.1306G>T (p.Glu436Ter) rs371011047 0.00003
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys) rs745870321 0.00003
NM_001377.3(DYNC2H1):c.5972T>A (p.Met1991Lys) rs1202784860 0.00003
NM_001377.3(DYNC2H1):c.7663G>A (p.Val2555Met) rs746195428 0.00003
NM_001377.3(DYNC2H1):c.7784A>G (p.His2595Arg) rs755505546 0.00003
NM_001377.3(DYNC2H1):c.7966C>T (p.Arg2656Cys) rs371214841 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.11829C>G (p.Tyr3943Ter) rs369658526 0.00002
NM_001377.3(DYNC2H1):c.1360+2del rs780539887 0.00002
NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs) rs755338872 0.00002
NM_001377.3(DYNC2H1):c.3719T>C (p.Ile1240Thr) rs137853028 0.00002
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met) rs751030969 0.00002
NM_001377.3(DYNC2H1):c.536G>A (p.Trp179Ter) rs1223863177 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.8512C>T (p.Arg2838Ter) rs137853032 0.00002
NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter) rs562139820 0.00001
NM_001377.3(DYNC2H1):c.10729C>T (p.Arg3577Ter) rs373536938 0.00001
NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=) rs764926983 0.00001
NM_001377.3(DYNC2H1):c.12642_12643insT (p.Ile4215fs) rs756811136 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.244C>T (p.Arg82Ter) rs1249901214 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.327C>G (p.Tyr109Ter) rs755305630 0.00001
NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp) rs745569868 0.00001
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val) rs1043384862 0.00001
NM_001377.3(DYNC2H1):c.4964A>G (p.Tyr1655Cys) rs1461272672 0.00001
NM_001377.3(DYNC2H1):c.5176C>T (p.Arg1726Ter) rs772321133 0.00001
NM_001377.3(DYNC2H1):c.5876T>A (p.Ile1959Asn) rs756556129 0.00001
NM_001377.3(DYNC2H1):c.6866T>C (p.Leu2289Pro) rs1555061205 0.00001
NM_001377.3(DYNC2H1):c.7112C>T (p.Thr2371Ile) rs1322884865 0.00001
NM_001377.3(DYNC2H1):c.739C>T (p.Arg247Ter) rs561778796 0.00001
NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly) rs1555062849 0.00001
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter) rs537704873 0.00001
NM_001377.3(DYNC2H1):c.7577T>G (p.Ile2526Ser) rs762588952 0.00001
NM_001377.3(DYNC2H1):c.7643T>C (p.Phe2548Ser) rs1555064376 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.7984C>T (p.Arg2662Trp) rs964711006 0.00001
NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln) rs397514635 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.9817C>T (p.Gln3273Ter) rs1322871899 0.00001
NM_001377.3(DYNC2H1):c.9844G>A (p.Asp3282Asn) rs780600124 0.00001
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) rs397514637 0.00001
NC_000011.9:g.(?_103039464)_(103041817_?)del
NC_000011.9:g.(?_103325894)_(103349981_?)del
NM_001080463.1(DYNC2H1):c.626_654dup (p.Glu219Phefs) rs1565310938
NM_001080463.1(DYNC2H1):c.7141delG rs1160036887
NM_001080463.1(DYNC2H1):c.7293-2_7298delAGTTACCC rs1862217660
NM_001080463.1(DYNC2H1):c.[11284A>G;5971A>T]
NM_001080463.1(DYNC2H1):c.[5053G>A];[7784A>G]
NM_001080463.2(DYNC2H1):c.9839G>A (p.Trp3280Ter) rs1565423740
NM_001377.3(DYNC2H1):c.10039C>T (p.Gln3347Ter)
NM_001377.3(DYNC2H1):c.10042+1G>A
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.10144del (p.Asp3382fs)
NM_001377.3(DYNC2H1):c.10196T>A (p.Leu3399Ter)
NM_001377.3(DYNC2H1):c.10252C>T (p.Gln3418Ter)
NM_001377.3(DYNC2H1):c.10268del (p.Leu3423fs)
NM_001377.3(DYNC2H1):c.10270C>T (p.Gln3424Ter)
NM_001377.3(DYNC2H1):c.10294C>T (p.Gln3432Ter)
NM_001377.3(DYNC2H1):c.10333dup (p.Ala3445fs)
NM_001377.3(DYNC2H1):c.10342C>T (p.Gln3448Ter)
NM_001377.3(DYNC2H1):c.10429G>T (p.Glu3477Ter)
NM_001377.3(DYNC2H1):c.10603C>T (p.Gln3535Ter) rs1555082470
NM_001377.3(DYNC2H1):c.10645dup (p.Ser3549fs)
NM_001377.3(DYNC2H1):c.10690_10693del (p.Phe3564fs)
NM_001377.3(DYNC2H1):c.10771del (p.Thr3591fs)
NM_001377.3(DYNC2H1):c.1078C>T (p.Arg360Ter) rs764769351
NM_001377.3(DYNC2H1):c.10798_10799del (p.Met3600fs)
NM_001377.3(DYNC2H1):c.10822C>T (p.Gln3608Ter)
NM_001377.3(DYNC2H1):c.10828dup (p.Ile3610fs)
NM_001377.3(DYNC2H1):c.10837C>T (p.Gln3613Ter)
NM_001377.3(DYNC2H1):c.10864C>T (p.Arg3622Ter)
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)
NM_001377.3(DYNC2H1):c.11293C>T (p.Gln3765Ter)
NM_001377.3(DYNC2H1):c.11364G>A (p.Trp3788Ter)
NM_001377.3(DYNC2H1):c.1141_1150del (p.Trp381fs) rs1555038664
NM_001377.3(DYNC2H1):c.11446_11447del (p.Asn3816fs)
NM_001377.3(DYNC2H1):c.11597del (p.Ser3866fs) rs1555098222
NM_001377.3(DYNC2H1):c.11606G>A (p.Trp3869Ter)
NM_001377.3(DYNC2H1):c.11621del (p.Cys3874fs)
NM_001377.3(DYNC2H1):c.11636del (p.Asn3879fs)
NM_001377.3(DYNC2H1):c.11659_11660del (p.Lys3887fs)
NM_001377.3(DYNC2H1):c.11667T>G (p.Tyr3889Ter) rs1937856263
NM_001377.3(DYNC2H1):c.11697dup (p.Tyr3900fs)
NM_001377.3(DYNC2H1):c.11713_11716del (p.Arg3905fs) rs1453448143
NM_001377.3(DYNC2H1):c.11762T>A (p.Leu3921Ter)
NM_001377.3(DYNC2H1):c.11895dup (p.Pro3966fs)
NM_001377.3(DYNC2H1):c.11915del (p.Pro3972fs) rs2135437962
NM_001377.3(DYNC2H1):c.1195dup (p.Ile399fs)
NM_001377.3(DYNC2H1):c.12169del (p.Ile4057fs)
NM_001377.3(DYNC2H1):c.12199C>T (p.Arg4067Ter)
NM_001377.3(DYNC2H1):c.12238C>T (p.Gln4080Ter) rs1942559934
NM_001377.3(DYNC2H1):c.1231C>T (p.Gln411Ter)
NM_001377.3(DYNC2H1):c.12393G>A (p.Trp4131Ter)
NM_001377.3(DYNC2H1):c.12415C>T (p.Gln4139Ter)
NM_001377.3(DYNC2H1):c.1243C>T (p.Gln415Ter)
NM_001377.3(DYNC2H1):c.12462G>A (p.Trp4154Ter)
NM_001377.3(DYNC2H1):c.12466_12469del (p.Asp4156fs) rs766816050
NM_001377.3(DYNC2H1):c.12477_12489del (p.Glu4159fs)
NM_001377.3(DYNC2H1):c.12480dup (p.Gln4161fs)
NM_001377.3(DYNC2H1):c.12512C>A (p.Ser4171Ter)
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)
NM_001377.3(DYNC2H1):c.1408_1418del (p.Ala470fs)
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter) rs1565317399
NM_001377.3(DYNC2H1):c.1614G>A (p.Trp538Ter)
NM_001377.3(DYNC2H1):c.1657_1660del (p.Leu553fs) rs748906528
NM_001377.3(DYNC2H1):c.1678C>T (p.Arg560Ter)
NM_001377.3(DYNC2H1):c.1757T>G (p.Val586Gly) rs864622357
NM_001377.3(DYNC2H1):c.1847_1852del (p.Ile616_Leu617del) rs773897318
NM_001377.3(DYNC2H1):c.1855C>T (p.Gln619Ter) rs1260978141
NM_001377.3(DYNC2H1):c.1864del (p.His622fs)
NM_001377.3(DYNC2H1):c.1903C>T (p.Gln635Ter)
NM_001377.3(DYNC2H1):c.193A>C (p.Thr65Pro) rs555339053
NM_001377.3(DYNC2H1):c.1949T>A (p.Ile650Asn) rs1555041449
NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=) rs1178331074
NM_001377.3(DYNC2H1):c.195G>T (p.Thr65=) rs896105030
NM_001377.3(DYNC2H1):c.1966G>T (p.Gly656Ter)
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)
NM_001377.3(DYNC2H1):c.2089del (p.Thr697fs)
NM_001377.3(DYNC2H1):c.2140C>T (p.Gln714Ter) rs2134773913
NM_001377.3(DYNC2H1):c.2203C>T (p.Gln735Ter)
NM_001377.3(DYNC2H1):c.2225T>G (p.Met742Arg) rs774610143
NM_001377.3(DYNC2H1):c.2247G>A (p.Trp749Ter)
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.2549T>A (p.Leu850Ter)
NM_001377.3(DYNC2H1):c.2574+1G>A rs1565329461
NM_001377.3(DYNC2H1):c.2692C>T (p.Arg898Ter)
NM_001377.3(DYNC2H1):c.2702+1G>A rs864622358
NM_001377.3(DYNC2H1):c.2736C>A (p.Cys912Ter)
NM_001377.3(DYNC2H1):c.2770C>T (p.Gln924Ter)
NM_001377.3(DYNC2H1):c.2818+1G>C rs1591316134
NM_001377.3(DYNC2H1):c.2981del (p.Asn994fs)
NM_001377.3(DYNC2H1):c.298_299del (p.Met100fs)
NM_001377.3(DYNC2H1):c.2990del (p.Leu997fs)
NM_001377.3(DYNC2H1):c.2992C>T (p.Arg998Ter)
NM_001377.3(DYNC2H1):c.2T>C (p.Met1Thr) rs2134667452
NM_001377.3(DYNC2H1):c.3095del (p.Gln1032fs) rs1555049536
NM_001377.3(DYNC2H1):c.3145C>T (p.Gln1049Ter)
NM_001377.3(DYNC2H1):c.3159del (p.Lys1053fs)
NM_001377.3(DYNC2H1):c.3262dup (p.Ile1088fs) rs767206815
NM_001377.3(DYNC2H1):c.3331G>A (p.Glu1111Lys) rs1860716899
NM_001377.3(DYNC2H1):c.3443_3446dup (p.Trp1149Ter)
NM_001377.3(DYNC2H1):c.3446G>A (p.Trp1149Ter) rs2134885529
NM_001377.3(DYNC2H1):c.3459-1G>A rs1860730801
NM_001377.3(DYNC2H1):c.3498G>A (p.Trp1166Ter)
NM_001377.3(DYNC2H1):c.3509T>G (p.Leu1170Ter)
NM_001377.3(DYNC2H1):c.3523del (p.Glu1175fs)
NM_001377.3(DYNC2H1):c.3793_3794insA (p.Arg1265fs)
NM_001377.3(DYNC2H1):c.3812del (p.Gly1271fs)
NM_001377.3(DYNC2H1):c.3859C>T (p.Arg1287Ter)
NM_001377.3(DYNC2H1):c.3984G>A (p.Trp1328Ter)
NM_001377.3(DYNC2H1):c.4009G>T (p.Glu1337Ter)
NM_001377.3(DYNC2H1):c.4018C>T (p.Gln1340Ter)
NM_001377.3(DYNC2H1):c.4093C>T (p.Gln1365Ter) rs2134896978
NM_001377.3(DYNC2H1):c.4098dup (p.Arg1367fs)
NM_001377.3(DYNC2H1):c.4162_4170dup (p.Val1388_Thr1390dup) rs1555051720
NM_001377.3(DYNC2H1):c.4219C>T (p.Gln1407Ter)
NM_001377.3(DYNC2H1):c.4241C>G (p.Ser1414Ter)
NM_001377.3(DYNC2H1):c.4256dup (p.Leu1419fs)
NM_001377.3(DYNC2H1):c.4328del (p.Gln1443fs) rs2134908680
NM_001377.3(DYNC2H1):c.4395_4399del (p.Cys1465_Asp1467delinsTer)
NM_001377.3(DYNC2H1):c.4418T>C (p.Ile1473Thr) rs1555052511
NM_001377.3(DYNC2H1):c.4429A>T (p.Lys1477Ter) rs754944912
NM_001377.3(DYNC2H1):c.4458del (p.Phe1486fs) rs1555052524
NM_001377.3(DYNC2H1):c.4472_4473insGGCCGGGCGCGGTGGCTCTCGCCTGTAGTCCCAGCTCATAGGGACGAACCGGCGAGCGTCGCGTCCGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATAAAGTTCC (p.Pro1491_Leu1492insAlaGlyArgGlyGlySerArgLeuTer)
NM_001377.3(DYNC2H1):c.448C>T (p.Arg150Ter)
NM_001377.3(DYNC2H1):c.4496G>A (p.Trp1499Ter)
NM_001377.3(DYNC2H1):c.4537C>T (p.Gln1513Ter)
NM_001377.3(DYNC2H1):c.4553G>A (p.Cys1518Tyr) rs1555053115
NM_001377.3(DYNC2H1):c.4610A>G (p.Gln1537Arg) rs137853033
NM_001377.3(DYNC2H1):c.4625_4627del (p.Ala1542del)
NM_001377.3(DYNC2H1):c.4678_4679insGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGATCATAGTC (p.Ser1559_Leu1560insArgArgSerGlnAspGlyArgIleGlyThrAlaProValTyrSerSerGlnArgGluArgArgArgArgArgXaaXaaXaaXaaLysLysLysLysLysLysLysAspHisSer)
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.4820T>A (p.Ile1607Asn) rs1555054771
NM_001377.3(DYNC2H1):c.4870_4871del (p.Trp1624fs)
NM_001377.3(DYNC2H1):c.4909G>T (p.Asp1637Tyr)
NM_001377.3(DYNC2H1):c.499C>T (p.Arg167Ter) rs755464335
NM_001377.3(DYNC2H1):c.5047del (p.Gly1684fs)
NM_001377.3(DYNC2H1):c.5125C>T (p.Gln1709Ter)
NM_001377.3(DYNC2H1):c.5129T>A (p.Val1710Asp) rs777396565
NM_001377.3(DYNC2H1):c.5151+1G>T rs431905499
NM_001377.3(DYNC2H1):c.5291dup (p.Leu1765fs)
NM_001377.3(DYNC2H1):c.5304_5305del (p.His1768fs)
NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter) rs754919042
NM_001377.3(DYNC2H1):c.5507_5508del (p.Lys1836fs)
NM_001377.3(DYNC2H1):c.5527A>T (p.Arg1843Ter)
NM_001377.3(DYNC2H1):c.5558+2T>C rs762666243
NM_001377.3(DYNC2H1):c.5612del (p.Thr1871fs) rs1555056464
NM_001377.3(DYNC2H1):c.5643_5646del (p.Arg1881fs)
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)
NM_001377.3(DYNC2H1):c.5925del (p.Val1976fs) rs1380132788
NM_001377.3(DYNC2H1):c.5959A>G (p.Thr1987Ala) rs137853035
NM_001377.3(DYNC2H1):c.5971A>T (p.Met1991Leu) rs137853025
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val) rs963717773
NM_001377.3(DYNC2H1):c.6043C>T (p.Arg2015Ter)
NM_001377.3(DYNC2H1):c.6099_6102dup (p.Thr2035fs)
NM_001377.3(DYNC2H1):c.6116G>A (p.Arg2039His) rs1555057503
NM_001377.3(DYNC2H1):c.6140-5A>G
NM_001377.3(DYNC2H1):c.6149C>G (p.Ser2050Ter)
NM_001377.3(DYNC2H1):c.6161G>C (p.Cys2054Ser) rs1555057838
NM_001377.3(DYNC2H1):c.6220C>T (p.Arg2074Ter)
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.6271A>G (p.Asn2091Asp) rs1555057881
NM_001377.3(DYNC2H1):c.6386_6393del (p.Ser2128_Trp2129insTer)
NM_001377.3(DYNC2H1):c.6464G>A (p.Trp2155Ter)
NM_001377.3(DYNC2H1):c.6485_6486del (p.Tyr2162fs)
NM_001377.3(DYNC2H1):c.6545G>A (p.Cys2182Tyr) rs780855765
NM_001377.3(DYNC2H1):c.6562T>C (p.Phe2188Leu) rs1555060411
NM_001377.3(DYNC2H1):c.6574C>T (p.Leu2192Phe) rs1243999036
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001377.3(DYNC2H1):c.6634-2A>G rs1555060940
NM_001377.3(DYNC2H1):c.6645G>A (p.Trp2215Ter)
NM_001377.3(DYNC2H1):c.6649C>T (p.Arg2217Ter)
NM_001377.3(DYNC2H1):c.6703del (p.Arg2235fs)
NM_001377.3(DYNC2H1):c.6709C>T (p.Arg2237Ter)
NM_001377.3(DYNC2H1):c.6751del (p.Ala2251fs)
NM_001377.3(DYNC2H1):c.6790C>T (p.Gln2264Ter)
NM_001377.3(DYNC2H1):c.6808C>T (p.Arg2270Ter)
NM_001377.3(DYNC2H1):c.6875dup (p.Glu2293fs)
NM_001377.3(DYNC2H1):c.6883T>C (p.Cys2295Arg) rs1555061228
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001377.3(DYNC2H1):c.6973C>T (p.Arg2325Ter)
NM_001377.3(DYNC2H1):c.7053_7054del (p.Cys2351_Glu2352delinsTer)
NM_001377.3(DYNC2H1):c.7057del (p.Arg2353fs)
NM_001377.3(DYNC2H1):c.7079del (p.Asp2360fs)
NM_001377.3(DYNC2H1):c.7130del (p.Phe2377fs)
NM_001377.3(DYNC2H1):c.7156G>T (p.Gly2386Ter)
NM_001377.3(DYNC2H1):c.7243_7244insTT (p.His2415fs)
NM_001377.3(DYNC2H1):c.7268C>A (p.Ser2423Tyr) rs1555062340
NM_001377.3(DYNC2H1):c.7284T>A (p.Cys2428Ter)
NM_001377.3(DYNC2H1):c.729T>A (p.Tyr243Ter) rs1565311145
NM_001377.3(DYNC2H1):c.7343del (p.Pro2448fs)
NM_001377.3(DYNC2H1):c.7380G>A (p.Trp2460Ter) rs921573478
NM_001377.3(DYNC2H1):c.7382G>T (p.Gly2461Val) rs137853034
NM_001377.3(DYNC2H1):c.7435C>T (p.Gln2479Ter) rs200989423
NM_001377.3(DYNC2H1):c.7438-2A>G rs1555063811
NM_001377.3(DYNC2H1):c.7486C>T (p.Pro2496Ser) rs397514636
NM_001377.3(DYNC2H1):c.7525T>C (p.Tyr2509His) rs1386343205
NM_001377.3(DYNC2H1):c.7527T>A (p.Tyr2509Ter)
NM_001377.3(DYNC2H1):c.7527T>G (p.Tyr2509Ter)
NM_001377.3(DYNC2H1):c.7630del (p.Glu2544fs)
NM_001377.3(DYNC2H1):c.773C>A (p.Ser258Ter)
NM_001377.3(DYNC2H1):c.7741_7744del (p.Asn2581fs)
NM_001377.3(DYNC2H1):c.7774_7782del (p.Leu2592_Pro2594del) rs1555066796
NM_001377.3(DYNC2H1):c.7786G>T (p.Gly2596Ter)
NM_001377.3(DYNC2H1):c.7858C>T (p.Arg2620Ter)
NM_001377.3(DYNC2H1):c.7894G>T (p.Glu2632Ter)
NM_001377.3(DYNC2H1):c.7903G>T (p.Glu2635Ter)
NM_001377.3(DYNC2H1):c.7909_7910del (p.Met2637fs)
NM_001377.3(DYNC2H1):c.7923_7926del (p.Asp2641fs)
NM_001377.3(DYNC2H1):c.7967G>T (p.Arg2656Leu) rs200614421
NM_001377.3(DYNC2H1):c.8070C>G (p.Phe2690Leu) rs1214801816
NM_001377.3(DYNC2H1):c.8145_8146delinsAT (p.Tyr2715_Gln2716delinsTer) rs1565390180
NM_001377.3(DYNC2H1):c.8227G>T (p.Glu2743Ter)
NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter) rs1437320571
NM_001377.3(DYNC2H1):c.8311+1G>A rs1555068270
NM_001377.3(DYNC2H1):c.8434del (p.Ser2812fs) rs1555068636
NM_001377.3(DYNC2H1):c.8517del (p.Glu2840fs)
NM_001377.3(DYNC2H1):c.8534del (p.Asn2845fs) rs431905507
NM_001377.3(DYNC2H1):c.8534dup (p.Asn2845fs)
NM_001377.3(DYNC2H1):c.8557A>T (p.Lys2853Ter)
NM_001377.3(DYNC2H1):c.8590del (p.Ala2864fs) rs1555070451
NM_001377.3(DYNC2H1):c.8611C>T (p.Arg2871Ter)
NM_001377.3(DYNC2H1):c.8669T>A (p.Leu2890Ter)
NM_001377.3(DYNC2H1):c.8729T>C (p.Leu2910Pro) rs1555071484
NM_001377.3(DYNC2H1):c.8769_8770del (p.Leu2924fs) rs1555071503
NM_001377.3(DYNC2H1):c.8909_8910del (p.Arg2970fs)
NM_001377.3(DYNC2H1):c.9045T>G (p.Asp3015Glu) rs794727767
NM_001377.3(DYNC2H1):c.9167C>G (p.Ser3056Ter)
NM_001377.3(DYNC2H1):c.9292C>T (p.Gln3098Ter)
NM_001377.3(DYNC2H1):c.9310G>T (p.Glu3104Ter)
NM_001377.3(DYNC2H1):c.9382del (p.Arg3128fs)
NM_001377.3(DYNC2H1):c.9421del (p.Val3141fs)
NM_001377.3(DYNC2H1):c.9436_9439del (p.Glu3146fs)
NM_001377.3(DYNC2H1):c.9493del (p.Ala3165fs)
NM_001377.3(DYNC2H1):c.9638A>G (p.Tyr3213Cys) rs923729821
NM_001377.3(DYNC2H1):c.9710-2A>G rs1555077194
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.9870G>A (p.Trp3290Ter)
NM_001377.3(DYNC2H1):c.9882_9894del (p.Leu3295fs)
NM_001377.3(DYNC2H1):c.9893C>A (p.Ser3298Ter)
NM_001377.3(DYNC2H1):c.9956del (p.Arg3319fs)
NM_001377.3(DYNC2H1):c.9992del (p.Gly3331fs)
Single allele

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