ClinVar Miner

List of variants studied for Jeune thoracic dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 503
Download table as spreadsheet
HGVS dbSNP
NC_000003.12:g.(?_160299237)_(160319939_?)del
NC_000011.10:g.(?_103282179)_(103282229_?)del
NC_000011.10:g.(?_103303073)_(103316640_?)del
NC_000011.10:g.(?_103479075)_(103479273_?)dup
NM_001080463.1(DYNC2H1):c.7141delG (p.Val2381Tyrfs) rs1160036887
NM_001080463.1(DYNC2H1):c.[11284A>G;5971A>T]
NM_001080463.1(DYNC2H1):c.[12602C>T;9865G>A]
NM_001199397.2(NEK1):c.1122A>C (p.Glu374Asp) rs992324423
NM_001318493.2(IFT88):c.2114G>C (p.Arg705Pro) rs373832683
NM_001329943.3(KIAA0586):c.3398del (p.Leu1133fs) rs1566883760
NM_001377.3(DYNC2H1):c.*211A>G rs148091830
NM_001377.3(DYNC2H1):c.*265C>T rs78537620
NM_001377.3(DYNC2H1):c.-33C>T rs547159267
NM_001377.3(DYNC2H1):c.-94G>T rs114993913
NM_001377.3(DYNC2H1):c.1000-7A>G rs745325616
NM_001377.3(DYNC2H1):c.10001C>G (p.Pro3334Arg) rs1565426918
NM_001377.3(DYNC2H1):c.10043-7T>A rs376067770
NM_001377.3(DYNC2H1):c.1007C>T (p.Ala336Val) rs182506343
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.10142C>T (p.Pro3381Leu) rs368631447
NM_001377.3(DYNC2H1):c.10152T>G (p.Ala3384=) rs886047574
NM_001377.3(DYNC2H1):c.10164T>A (p.Thr3388=)
NM_001377.3(DYNC2H1):c.10164T>G (p.Thr3388=) rs11225634
NM_001377.3(DYNC2H1):c.10199G>A (p.Arg3400Gln) rs775615484
NM_001377.3(DYNC2H1):c.10206+6C>T rs1591478542
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182
NM_001377.3(DYNC2H1):c.10237C>G (p.Pro3413Ala) rs786204223
NM_001377.3(DYNC2H1):c.10314A>G (p.Glu3438=) rs369838929
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311
NM_001377.3(DYNC2H1):c.10326+6A>G rs750262824
NM_001377.3(DYNC2H1):c.10433C>A (p.Ser3478Tyr)
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468
NM_001377.3(DYNC2H1):c.10466G>T (p.Arg3489Leu) rs755858936
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=) rs151056947
NM_001377.3(DYNC2H1):c.10550G>A (p.Arg3517His) rs188113889
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657
NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter) rs562139820
NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro) rs200460601
NM_001377.3(DYNC2H1):c.1069T>C (p.Cys357Arg)
NM_001377.3(DYNC2H1):c.10773G>A (p.Thr3591=) rs12574626
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His) rs116872934
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=) rs187451323
NM_001377.3(DYNC2H1):c.10848T>G (p.Ser3616=) rs199958495
NM_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=) rs117178504
NM_001377.3(DYNC2H1):c.10884A>T (p.Thr3628=) rs371844948
NM_001377.3(DYNC2H1):c.10900C>T (p.Pro3634Ser) rs769053227
NM_001377.3(DYNC2H1):c.10918del (p.Leu3640fs) rs759649136
NM_001377.3(DYNC2H1):c.10946G>A (p.Arg3649His) rs753691638
NM_001377.3(DYNC2H1):c.10966A>G (p.Met3656Val) rs151156076
NM_001377.3(DYNC2H1):c.10975C>G (p.Gln3659Glu) rs200340319
NM_001377.3(DYNC2H1):c.11039C>T (p.Ala3680Val) rs10895391
NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=) rs764926983
NM_001377.3(DYNC2H1):c.11184T>A (p.Ser3728=) rs863224375
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=) rs78599571
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg) rs758727391
NM_001377.3(DYNC2H1):c.1134+8A>G rs138290301
NM_001377.3(DYNC2H1):c.11382+7_11382+16del rs769400590
NM_001377.3(DYNC2H1):c.11383-5A>G
NM_001377.3(DYNC2H1):c.1141_1150del (p.Trp381fs) rs1555038664
NM_001377.3(DYNC2H1):c.11493+2T>A rs1555096711
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.11597del (p.Ser3866fs) rs1555098222
NM_001377.3(DYNC2H1):c.11670A>G (p.Glu3890=) rs368459657
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.11726-10A>T rs185916947
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.11904C>T (p.Ser3968=) rs767613863
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.12007G>A (p.Ala4003Thr) rs61737514
NM_001377.3(DYNC2H1):c.12096T>C (p.Asp4032=) rs2566913
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.12254G>A (p.Arg4085His) rs115480556
NM_001377.3(DYNC2H1):c.12316T>G (p.Leu4106Val) rs139902197
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435
NM_001377.3(DYNC2H1):c.12366+7G>A rs10895417
NM_001377.3(DYNC2H1):c.12366+8A>G rs200404815
NM_001377.3(DYNC2H1):c.12389A>G (p.Lys4130Arg) rs368043505
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.12457-6C>T rs11225812
NM_001377.3(DYNC2H1):c.1248+8A>G rs202130799
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.1263C>A (p.Phe421Leu) rs142881106
NM_001377.3(DYNC2H1):c.12766-7dup rs747006567
NM_001377.3(DYNC2H1):c.12776G>T (p.Gly4259Val) rs368203507
NM_001377.3(DYNC2H1):c.12806T>C (p.Leu4269Ser) rs1555143920
NM_001377.3(DYNC2H1):c.12817A>C (p.Thr4273Pro) rs374409204
NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly) rs368654019
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg) rs144717489
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His) rs770380730
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) rs371011047
NM_001377.3(DYNC2H1):c.1355_1358del (p.Ile452fs) rs1223907858
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln) rs17099969
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr) rs202233363
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter) rs1565317399
NM_001377.3(DYNC2H1):c.1631C>T (p.Ser544Leu)
NM_001377.3(DYNC2H1):c.1662-3T>C rs548328948
NM_001377.3(DYNC2H1):c.1679G>T (p.Arg560Leu)
NM_001377.3(DYNC2H1):c.1757T>G (p.Val586Gly) rs864622357
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe) rs180861816
NM_001377.3(DYNC2H1):c.1855C>T (p.Gln619Ter) rs1260978141
NM_001377.3(DYNC2H1):c.195+5G>A rs774148120
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117
NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=) rs1178331074
NM_001377.3(DYNC2H1):c.196-13T>C rs765533229
NM_001377.3(DYNC2H1):c.1966G>A (p.Gly656Arg) rs369040584
NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu) rs189533535
NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs) rs1555042801
NM_001377.3(DYNC2H1):c.2106+5A>G rs886047560
NM_001377.3(DYNC2H1):c.2142G>C (p.Gln714His) rs182352825
NM_001377.3(DYNC2H1):c.2145A>G (p.Gln715=) rs373969189
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=) rs17301028
NM_001377.3(DYNC2H1):c.2225T>G (p.Met742Arg) rs774610143
NM_001377.3(DYNC2H1):c.2235G>A (p.Trp745Ter) rs1309577378
NM_001377.3(DYNC2H1):c.2244C>T (p.His748=) rs373707570
NM_001377.3(DYNC2H1):c.2341T>G (p.Tyr781Asp) rs1555043520
NM_001377.3(DYNC2H1):c.2385C>G (p.Ile795Met) rs780228819
NM_001377.3(DYNC2H1):c.2386del (p.Arg796fs) rs765454943
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=) rs77738279
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.2482A>G (p.Met828Val) rs200961157
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.2550G>A (p.Leu850=) rs375307767
NM_001377.3(DYNC2H1):c.2574+1G>A rs1565329461
NM_001377.3(DYNC2H1):c.266A>G (p.Glu89Gly) rs886047558
NM_001377.3(DYNC2H1):c.2702+1G>A rs864622358
NM_001377.3(DYNC2H1):c.27G>T (p.Arg9=) rs113537035
NM_001377.3(DYNC2H1):c.2818+13T>C rs150786504
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615
NM_001377.3(DYNC2H1):c.291T>A (p.Val97=) rs377529350
NM_001377.3(DYNC2H1):c.2920A>G (p.Ser974Gly)
NM_001377.3(DYNC2H1):c.2922T>C (p.Ser974=) rs761013187
NM_001377.3(DYNC2H1):c.2del (p.Met1fs)
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=) rs202082545
NM_001377.3(DYNC2H1):c.3015A>G (p.Leu1005=) rs201310509
NM_001377.3(DYNC2H1):c.3095del (p.Gln1032fs) rs1555049536
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His) rs191381310
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) rs200466720
NM_001377.3(DYNC2H1):c.3337A>G (p.Asn1113Asp)
NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs) rs755338872
NM_001377.3(DYNC2H1):c.3372C>T (p.Ile1124=) rs774300457
NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp) rs745569868
NM_001377.3(DYNC2H1):c.3384C>A (p.Ala1128=) rs199935024
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=) rs373977008
NM_001377.3(DYNC2H1):c.3419G>T (p.Gly1140Val) rs201043335
NM_001377.3(DYNC2H1):c.348C>T (p.Phe116=) rs776765795
NM_001377.3(DYNC2H1):c.3500A>G (p.His1167Arg) rs185613200
NM_001377.3(DYNC2H1):c.366+10G>A rs200257097
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=) rs118191062
NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu) rs201194631
NM_001377.3(DYNC2H1):c.367-2A>G rs1291197898
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840
NM_001377.3(DYNC2H1):c.3744+9C>T rs142483417
NM_001377.3(DYNC2H1):c.3794G>T (p.Arg1265Leu)
NM_001377.3(DYNC2H1):c.3862A>G (p.Thr1288Ala) rs17301750
NM_001377.3(DYNC2H1):c.391G>C (p.Asp131His) rs759690887
NM_001377.3(DYNC2H1):c.3995T>G (p.Leu1332Arg) rs786204078
NM_001377.3(DYNC2H1):c.4020G>T (p.Gln1340His)
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941
NM_001377.3(DYNC2H1):c.4162_4170dup (p.Val1388_Thr1390dup) rs1555051720
NM_001377.3(DYNC2H1):c.4192A>C (p.Arg1398=) rs371259464
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg) rs688906
NM_001377.3(DYNC2H1):c.4312T>C (p.Leu1438=) rs367841359
NM_001377.3(DYNC2H1):c.4379-1G>C rs1555052497
NM_001377.3(DYNC2H1):c.4418T>C (p.Ile1473Thr) rs1555052511
NM_001377.3(DYNC2H1):c.4553G>A (p.Cys1518Tyr) rs1555053115
NM_001377.3(DYNC2H1):c.4611+14C>T rs766124250
NM_001377.3(DYNC2H1):c.466T>A (p.Leu156Ile) rs765931519
NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=) rs201016942
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys) rs72989738
NM_001377.3(DYNC2H1):c.4812C>T (p.Ile1604=) rs370677208
NM_001377.3(DYNC2H1):c.4916C>A (p.Thr1639Lys) rs200239560
NM_001377.3(DYNC2H1):c.4918T>C (p.Cys1640Arg) rs768540376
NM_001377.3(DYNC2H1):c.4941T>G (p.Ser1647=) rs981069530
NM_001377.3(DYNC2H1):c.4959T>C (p.Tyr1653=) rs201863754
NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe) rs201563576
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met) rs751030969
NM_001377.3(DYNC2H1):c.5088G>A (p.Thr1696=) rs201302396
NM_001377.3(DYNC2H1):c.5114T>C (p.Leu1705Pro) rs878854166
NM_001377.3(DYNC2H1):c.5152-3A>C rs372549709
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.5334+6G>A rs372964069
NM_001377.3(DYNC2H1):c.5335-14A>G rs372488002
NM_001377.3(DYNC2H1):c.5399G>A (p.Gly1800Glu) rs1555056136
NM_001377.3(DYNC2H1):c.5439G>A (p.Arg1813=) rs371039240
NM_001377.3(DYNC2H1):c.5442C>T (p.Pro1814=) rs76833922
NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val) rs200208000
NM_001377.3(DYNC2H1):c.5472T>C (p.Leu1824=) rs886047564
NM_001377.3(DYNC2H1):c.5473A>G (p.Ile1825Val) rs201860217
NM_001377.3(DYNC2H1):c.5486T>C (p.Ile1829Thr)
NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter) rs754919042
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.5547del (p.Phe1849fs) rs771003300
NM_001377.3(DYNC2H1):c.5558+2T>C rs762666243
NM_001377.3(DYNC2H1):c.5558+4A>G rs11225578
NM_001377.3(DYNC2H1):c.5559-6T>C rs369043863
NM_001377.3(DYNC2H1):c.5612del (p.Thr1871fs) rs1555056464
NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys) rs199541807
NM_001377.3(DYNC2H1):c.5681A>G (p.Glu1894Gly)
NM_001377.3(DYNC2H1):c.5682_5683del (p.His1896fs) rs767846762
NM_001377.3(DYNC2H1):c.5690T>C (p.Ile1897Thr)
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098
NM_001377.3(DYNC2H1):c.570T>C (p.Ile190=) rs1159253078
NM_001377.3(DYNC2H1):c.5718C>A (p.Thr1906=) rs585692
NM_001377.3(DYNC2H1):c.5771A>T (p.Asp1924Val) rs1565368733
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536
NM_001377.3(DYNC2H1):c.5798A>G (p.Glu1933Gly) rs201829296
NM_001377.3(DYNC2H1):c.5821G>C (p.Ala1941Pro) rs368058473
NM_001377.3(DYNC2H1):c.5925del (p.Val1976fs) rs1380132788
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr) rs552436294
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.6057A>G (p.Leu2019=) rs187190605
NM_001377.3(DYNC2H1):c.6139+7C>T rs200749262
NM_001377.3(DYNC2H1):c.6159C>T (p.Ile2053=) rs373665655
NM_001377.3(DYNC2H1):c.6161G>C (p.Cys2054Ser) rs1555057838
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile) rs431905498
NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile) rs771511132
NM_001377.3(DYNC2H1):c.6265A>G (p.Asn2089Asp) rs753662982
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr) rs201003494
NM_001377.3(DYNC2H1):c.6347+1G>A rs1565371538
NM_001377.3(DYNC2H1):c.6420T>C (p.Asn2140=) rs11225584
NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=) rs116666272
NM_001377.3(DYNC2H1):c.6478-16G>A rs376892534
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val) rs201967064
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.6642T>C (p.His2214=) rs200306856
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.6711A>G (p.Arg2237=) rs658804
NM_001377.3(DYNC2H1):c.6726G>T (p.Val2242=) rs200600809
NM_001377.3(DYNC2H1):c.6769G>A (p.Gly2257Ser)
NM_001377.3(DYNC2H1):c.6894-4G>A rs17100043
NM_001377.3(DYNC2H1):c.6909C>T (p.Tyr2303=) rs191012679
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001377.3(DYNC2H1):c.6918A>G (p.Ser2306=) rs368824340
NM_001377.3(DYNC2H1):c.6931A>G (p.Thr2311Ala) rs760509494
NM_001377.3(DYNC2H1):c.6951C>T (p.His2317=) rs586592
NM_001377.3(DYNC2H1):c.7030C>T (p.Arg2344Cys) rs547419104
NM_001377.3(DYNC2H1):c.7032T>A (p.Arg2344=) rs760382908
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=) rs116574613
NM_001377.3(DYNC2H1):c.7128A>G (p.Ala2376=) rs371410128
NM_001377.3(DYNC2H1):c.7129T>G (p.Phe2377Val) rs1565379048
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=) rs79832792
NM_001377.3(DYNC2H1):c.7198A>G (p.Ile2400Val) rs114292876
NM_001377.3(DYNC2H1):c.7209G>A (p.Val2403=) rs371948128
NM_001377.3(DYNC2H1):c.7277G>T (p.Arg2426Leu) rs373521030
NM_001377.3(DYNC2H1):c.729T>A (p.Tyr243Ter) rs1565311145
NM_001377.3(DYNC2H1):c.7319C>T (p.Thr2440Met) rs146569005
NM_001377.3(DYNC2H1):c.7320G>A (p.Thr2440=) rs183927107
NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly) rs1555062849
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter) rs537704873
NM_001377.3(DYNC2H1):c.7492A>G (p.Ile2498Val)
NM_001377.3(DYNC2H1):c.7495C>G (p.Leu2499Val) rs878854167
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646
NM_001377.3(DYNC2H1):c.7597C>T (p.Arg2533Cys) rs754889986
NM_001377.3(DYNC2H1):c.7607G>A (p.Arg2536His) rs376790555
NM_001377.3(DYNC2H1):c.7663G>A (p.Val2555Met) rs746195428
NM_001377.3(DYNC2H1):c.7782A>G (p.Pro2594=) rs886047566
NM_001377.3(DYNC2H1):c.7797T>G (p.Leu2599=) rs139319426
NM_001377.3(DYNC2H1):c.7840-6dup rs886047567
NM_001377.3(DYNC2H1):c.7919T>C (p.Ile2640Thr) rs1265669915
NM_001377.3(DYNC2H1):c.7945G>T (p.Gly2649Cys) rs758155107
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His) rs200614421
NM_001377.3(DYNC2H1):c.8003T>G (p.Val2668Gly) rs764468030
NM_001377.3(DYNC2H1):c.8012T>C (p.Met2671Thr) rs1196317554
NM_001377.3(DYNC2H1):c.8102C>T (p.Ala2701Val) rs765998830
NM_001377.3(DYNC2H1):c.8107A>T (p.Ile2703Phe)
NM_001377.3(DYNC2H1):c.8197G>T (p.Gly2733Cys) rs969015057
NM_001377.3(DYNC2H1):c.8271A>G (p.Gln2757=) rs183652156
NM_001377.3(DYNC2H1):c.8293T>G (p.Phe2765Val) rs199503535
NM_001377.3(DYNC2H1):c.8311+10A>G rs376842066
NM_001377.3(DYNC2H1):c.8311+1G>A rs1555068270
NM_001377.3(DYNC2H1):c.8351C>T (p.Ser2784Phe) rs886047568
NM_001377.3(DYNC2H1):c.8434del (p.Ser2812fs) rs1555068636
NM_001377.3(DYNC2H1):c.8444G>A (p.Ser2815Asn) rs1565394254
NM_001377.3(DYNC2H1):c.8457A>G (p.Ile2819Met) rs1060501431
NM_001377.3(DYNC2H1):c.8473A>G (p.Ser2825Gly) rs886047569
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=) rs370627443
NM_001377.3(DYNC2H1):c.8580A>G (p.Glu2860=) rs17394217
NM_001377.3(DYNC2H1):c.8585G>A (p.Cys2862Tyr)
NM_001377.3(DYNC2H1):c.8590del (p.Ala2864fs) rs1555070451
NM_001377.3(DYNC2H1):c.8612G>A (p.Arg2871Gln) rs589623
NM_001377.3(DYNC2H1):c.8769G>A (p.Val2923=) rs375421077
NM_001377.3(DYNC2H1):c.8780C>T (p.Thr2927Met) rs752196931
NM_001377.3(DYNC2H1):c.8822T>G (p.Val2941Gly)
NM_001377.3(DYNC2H1):c.8833-3T>C rs551227065
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr) rs199568537
NM_001377.3(DYNC2H1):c.8946+10A>C rs550521675
NM_001377.3(DYNC2H1):c.8989C>T (p.Pro2997Ser) rs762604608
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001377.3(DYNC2H1):c.9045T>G (p.Asp3015Glu) rs794727767
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610
NM_001377.3(DYNC2H1):c.9178A>C (p.Arg3060=) rs200515728
NM_001377.3(DYNC2H1):c.9217T>C (p.Ser3073Pro) rs199970220
NM_001377.3(DYNC2H1):c.9231+12G>A rs369045696
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556
NM_001377.3(DYNC2H1):c.9353+1G>A rs776407305
NM_001377.3(DYNC2H1):c.9353+7G>A rs78309870
NM_001377.3(DYNC2H1):c.9505A>G (p.Ile3169Val) rs200170585
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.9760_9764del (p.Trp3253_Lys3254insTer) rs1218198013
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile) rs200342335
NM_001377.3(DYNC2H1):c.9820-2147G>A rs1565423740
NM_001377.3(DYNC2H1):c.9820-2A>G rs864622111
NM_001377.3(DYNC2H1):c.9820-8T>A rs750689751
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.988C>T (p.Arg330Cys) rs397514637
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811
NM_002296.4(LBR):c.1174G>A (p.Gly392Arg) rs1236962991
NM_002296.4(LBR):c.1535G>A (p.Arg512Gln) rs754049402
NM_014053.4(FLVCR1):c.87G>C (p.Ala29=) rs1558104145
NM_014055.4(IFT81):c.1534C>T (p.Arg512Ter) rs200335504
NM_014714.4(IFT140):c.1010-1G>A rs770185023
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) rs587776909
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361
NM_014714.4(IFT140):c.70C>T (p.His24Tyr) rs939722027
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
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_015650.4(TRAF3IP1):c.1358C>G (p.Ser453Cys) rs146820102
NM_015650.4(TRAF3IP1):c.1368-1del rs764906529
NM_015681.5(B9D1):c.467G>C (p.Arg156Pro) rs886038205
NM_015693.4(INTU):c.1288C>T (p.Arg430Cys) rs1227833863
NM_015693.4(INTU):c.1628G>A (p.Arg543His) rs34027211
NM_016004.5(IFT52):c.931G>A (p.Glu311Lys) rs145672738
NM_018051.5(DYNC2I1):c.1777C>T (p.Arg593Trp) rs776300442
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys) rs193204571
NM_020779.4(WDR35):c.1400+3A>G rs776631281
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377
NM_020779.4(WDR35):c.2489A>T (p.Asp830Val) rs1553316926
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783
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.1052C>T (p.Thr351Met)
NM_020800.3(IFT80):c.1076+9C>G rs139408398
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135
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.1187del (p.Leu396fs)
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.1341C>T (p.Thr447=) rs779074288
NM_020800.3(IFT80):c.1342G>A (p.Gly448Arg)
NM_020800.3(IFT80):c.1343G>T (p.Gly448Val)
NM_020800.3(IFT80):c.1350G>A (p.Pro450=) rs201146135
NM_020800.3(IFT80):c.1350G>C (p.Pro450=) rs201146135
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.1561C>T (p.Leu521Phe) rs1553753582
NM_020800.3(IFT80):c.1665-6del rs747849008
NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp) rs202145480
NM_020800.3(IFT80):c.1753A>T (p.Ile585Leu) rs864622337
NM_020800.3(IFT80):c.1756A>T (p.Thr586Ser) rs6778728
NM_020800.3(IFT80):c.1771A>G (p.Ile591Val) rs142518115
NM_020800.3(IFT80):c.1836+5T>C
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346
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.1961del (p.Asn654fs)
NM_020800.3(IFT80):c.2099+10A>G rs376944901
NM_020800.3(IFT80):c.2099+4A>G rs754398043
NM_020800.3(IFT80):c.2100G>C (p.Arg700Ser)
NM_020800.3(IFT80):c.2116G>A (p.Val706Ile)
NM_020800.3(IFT80):c.2139T>C (p.Asp713=) rs16831157
NM_020800.3(IFT80):c.213A>C (p.Val71=) rs560970159
NM_020800.3(IFT80):c.2142A>T (p.Thr714=) rs751917876
NM_020800.3(IFT80):c.2149G>A (p.Ala717Thr) rs370294182
NM_020800.3(IFT80):c.2151T>A (p.Ala717=) rs749975436
NM_020800.3(IFT80):c.2156G>A (p.Arg719His) rs551983792
NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys) rs201820395
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.2224-10del rs58665245
NM_020800.3(IFT80):c.2224-19dup rs58665245
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.371-10C>A rs188321058
NM_020800.3(IFT80):c.371T>C (p.Val124Ala)
NM_020800.3(IFT80):c.462G>A (p.Ala154=) rs34182424
NM_020800.3(IFT80):c.511A>G (p.Ile171Val)
NM_020800.3(IFT80):c.546G>A (p.Leu182=) rs543233802
NM_020800.3(IFT80):c.571A>G (p.Ile191Val)
NM_020800.3(IFT80):c.572T>A (p.Ile191Asn) rs372576954
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.807T>C (p.Thr269=) rs372419950
NM_020800.3(IFT80):c.819T>C (p.Phe273=) rs1576803474
NM_020800.3(IFT80):c.846T>C (p.Thr282=) rs141134950
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) rs138081429
NM_020800.3(IFT80):c.879C>T (p.Val293=) rs143660757
NM_020800.3(IFT80):c.880G>A (p.Val294Ile) rs148926415
NM_020800.3(IFT80):c.895G>A (p.Val299Met)
NM_020800.3(IFT80):c.897G>A (p.Val299=) rs145776235
NM_020800.3(IFT80):c.912G>A (p.Glu304=) rs199575501
NM_020800.3(IFT80):c.933A>G (p.Thr311=) rs138798955
NM_020800.3(IFT80):c.937A>G (p.Thr313Ala) rs146065418
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)
NM_020800.3(IFT80):c.958-1G>T
NM_024753.4(TTC21B):c.-107C>T rs545898884
NM_024753.4(TTC21B):c.-145G>A rs111867313
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.1397C>A (p.Pro466His) rs1453462442
NM_024753.5(TTC21B):c.1495G>A (p.Ala499Thr) rs866222900
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249
NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter) rs777162250
NM_024753.5(TTC21B):c.703G>C (p.Ala235Pro) rs150742619
NM_024753.5(TTC21B):c.95G>A (p.Arg32Lys) rs886055028
NM_024755.4(SLTM):c.2600C>A (p.Pro867His) rs1401798992
NM_025103.4(IFT74):c.1054G>T (p.Gly352Cys) rs759662469
NM_025129.5(FUZ):c.851G>T (p.Arg284Leu) rs368721486
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.1483G>C (p.Gly495Arg) rs1215108056
NM_025132.4(WDR19):c.2364-15_2364-14del rs555557314
NM_025132.4(WDR19):c.2563C>T (p.Gln855Ter) rs772599282
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser) rs545916111
NM_025132.4(WDR19):c.3565+1G>A rs587777352
NM_025132.4(WDR19):c.3716+1G>A rs1191056931
NM_025132.4(WDR19):c.3758G>A (p.Cys1253Tyr) rs750716949
NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr) rs745603321
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.746T>C (p.Phe249Ser) rs1553905326
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) rs375644378
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg) rs377160857
NM_025132.4(WDR19):c.974T>C (p.Leu325Ser) rs1193255568
NM_052844.3(DYNC2I2):c.1177G>A (p.Gly393Ser) rs587777096
NM_052844.3(DYNC2I2):c.1480C>T (p.Gln494Ter) rs751323441
NM_052844.3(DYNC2I2):c.1567_1582del (p.Glu523fs) rs1554770453
NM_052844.3(DYNC2I2):c.544C>T (p.Arg182Trp) rs555811074
NM_052844.3(DYNC2I2):c.935T>C (p.Phe312Ser) rs1554771175
NM_052873.3(IFT43):c.73C>T (p.Arg25Ter) rs780404339
NM_052873.3(IFT43):c.8A>G (p.Asp3Gly) rs144776609
NM_147127.5(EVC2):c.1713dup (p.Asn572fs) rs1553836165
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.