ClinVar Miner

List of variants studied for Jeune thoracic dystrophy by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 295
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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_001377.3(DYNC2H1):c.10043-7T>A rs376067770
NM_001377.3(DYNC2H1):c.1007C>T (p.Ala336Val) rs182506343
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.10433C>A (p.Ser3478Tyr)
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468
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.10864C>A (p.Arg3622=) rs117178504
NM_001377.3(DYNC2H1):c.10884A>T (p.Thr3628=) rs371844948
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.11039C>T (p.Ala3680Val) rs10895391
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.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.11670A>G (p.Glu3890=) rs368459657
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.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.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.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.12776G>T (p.Gly4259Val) rs368203507
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg) rs144717489
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.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.195+5G>A rs774148120
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117
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.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.2235G>A (p.Trp745Ter) rs1309577378
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=) rs77738279
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.2702+1G>A rs864622358
NM_001377.3(DYNC2H1):c.27G>T (p.Arg9=) rs113537035
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615
NM_001377.3(DYNC2H1):c.2920A>G (p.Ser974Gly)
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.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.3372C>T (p.Ile1124=) rs774300457
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.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.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.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.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.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.5334+6G>A rs372964069
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.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.5547del (p.Phe1849fs) rs771003300
NM_001377.3(DYNC2H1):c.5558+4A>G rs11225578
NM_001377.3(DYNC2H1):c.5559-6T>C rs369043863
NM_001377.3(DYNC2H1):c.5681A>G (p.Glu1894Gly)
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.5798A>G (p.Glu1933Gly) rs201829296
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.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.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.6478-6C>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.6918A>G (p.Ser2306=) rs368824340
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.7122G>A (p.Leu2374=) rs116574613
NM_001377.3(DYNC2H1):c.7128A>G (p.Ala2376=) rs371410128
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.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.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.7797T>G (p.Leu2599=) rs139319426
NM_001377.3(DYNC2H1):c.8102C>T (p.Ala2701Val) rs765998830
NM_001377.3(DYNC2H1):c.8107A>T (p.Ile2703Phe)
NM_001377.3(DYNC2H1):c.8271A>G (p.Gln2757=) rs183652156
NM_001377.3(DYNC2H1):c.8457A>G (p.Ile2819Met) rs1060501431
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.8612G>A (p.Arg2871Gln) rs589623
NM_001377.3(DYNC2H1):c.8769G>A (p.Val2923=) rs375421077
NM_001377.3(DYNC2H1):c.8822T>G (p.Val2941Gly)
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr) rs199568537
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.911A>T (p.Gln304Leu) rs12146610
NM_001377.3(DYNC2H1):c.9178A>C (p.Arg3060=) rs200515728
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556
NM_001377.3(DYNC2H1):c.9353+7G>A rs78309870
NM_001377.3(DYNC2H1):c.9505A>G (p.Ile3169Val) rs200170585
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294
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.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_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.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.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_024753.5(TTC21B):c.684G>A (p.Trp228Ter) rs777162250

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