ClinVar Miner

List of variants reported as pathogenic for Jeune thoracic dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 351
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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.4073G>A (p.Arg1358His) rs184256941 0.00078
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478 0.00043
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_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230 0.00023
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
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.5983G>A (p.Ala1995Thr) rs552436294 0.00011
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
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_014714.4(IFT140):c.1010-1G>A rs770185023 0.00006
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg) rs377160857 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_018051.5(DYNC2I1):c.1777C>T (p.Arg593Trp) rs776300442 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.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys) rs193204571 0.00004
NM_025132.4(WDR19):c.3565+1G>A rs587777352 0.00004
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635 0.00004
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) rs375644378 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.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.9353+1G>A rs776407305 0.00003
NM_001377.3(DYNC2H1):c.9565C>T (p.Gln3189Ter) rs373924400 0.00003
NM_015650.4(TRAF3IP1):c.1368-1del rs764906529 0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 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.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.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_002296.4(LBR):c.1535G>A (p.Arg512Gln) rs754049402 0.00002
NM_014714.4(IFT140):c.70C>T (p.His24Tyr) rs939722027 0.00002
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) rs746068882 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.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.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.5176C>T (p.Arg1726Ter) rs772321133 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.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.9844G>A (p.Asp3282Asn) rs780600124 0.00001
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) rs397514637 0.00001
NM_020779.4(WDR35):c.1400+3A>G rs776631281 0.00001
NM_020800.3(IFT80):c.1882C>T (p.Arg628Ter) rs781436346 0.00001
NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg) rs1215108056 0.00001
NM_025132.4(WDR19):c.2563C>T (p.Gln855Ter) rs772599282 0.00001
NM_052844.4(DYNC2I2):c.1177G>A (p.Gly393Ser) rs587777096 0.00001
NM_052844.4(DYNC2I2):c.1480C>T (p.Gln494Ter) rs751323441 0.00001
NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp) rs555811074 0.00001
NM_147127.5(EVC2):c.1713dup (p.Asn572fs) rs1553836165 0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NC_000003.11:g.(?_160073781)_(160083960_?)del
NC_000003.11:g.(?_160073781)_(160099532_?)del
NC_000003.11:g.(?_160083811)_(160099532_?)del
NC_000003.12:g.(?_160299237)_(160319939_?)del
NC_000003.12:g.160307782_160307783insACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAACATTACGAACC
NC_000011.9:g.(?_101323686)_(103349981_?)del
NC_000011.9:g.(?_103039464)_(103041817_?)del
NC_000011.9:g.(?_103325894)_(103349981_?)del
NM_001080463.1(DYNC2H1):c.7141delG rs1160036887
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.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.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.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.1953G>A (p.Lys651=) rs1178331074
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.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.3443_3446dup (p.Trp1149Ter)
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.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.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.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.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.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.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.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.6386_6393del (p.Ser2128_Trp2129insTer)
NM_001377.3(DYNC2H1):c.6485_6486del (p.Tyr2162fs)
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
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.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.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.7435C>T (p.Gln2479Ter) rs200989423
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.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.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.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.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)
NM_001619.5(GRK2):c.469C>T (p.Leu157Phe) rs2136500272
NM_002296.4(LBR):c.1174G>A (p.Gly392Arg) rs1236962991
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) rs587776909
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
NM_015650.4(TRAF3IP1):c.1358C>G (p.Ser453Cys) rs146820102
NM_020779.4(WDR35):c.2489A>T (p.Asp830Val) rs1553316926
NM_020800.3(IFT80):c.1066del (p.Tyr356fs) rs1386720978
NM_020800.3(IFT80):c.1187del (p.Leu396fs) rs1716383227
NM_020800.3(IFT80):c.120G>A (p.Trp40Ter)
NM_020800.3(IFT80):c.128T>G (p.Leu43Ter)
NM_020800.3(IFT80):c.1388del (p.Ile463fs) rs2108234807
NM_020800.3(IFT80):c.1483C>T (p.Arg495Ter)
NM_020800.3(IFT80):c.1561C>T (p.Leu521Phe) rs1553753582
NM_020800.3(IFT80):c.1866dup (p.Met623fs)
NM_020800.3(IFT80):c.1961del (p.Asn654fs) rs779179710
NM_020800.3(IFT80):c.1961dup (p.Asn654fs)
NM_020800.3(IFT80):c.1989_1990del (p.Ile665fs)
NM_020800.3(IFT80):c.2085del (p.Tyr696fs)
NM_020800.3(IFT80):c.2094G>A (p.Trp698Ter)
NM_020800.3(IFT80):c.2119A>T (p.Lys707Ter)
NM_020800.3(IFT80):c.2124C>G (p.Tyr708Ter)
NM_020800.3(IFT80):c.225_226insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAACAAACC (p.Gln76fs) rs2108404264
NM_020800.3(IFT80):c.28G>T (p.Glu10Ter)
NM_020800.3(IFT80):c.411dup (p.Met138fs) rs778324141
NM_020800.3(IFT80):c.464G>A (p.Trp155Ter)
NM_020800.3(IFT80):c.551G>A (p.Trp184Ter) rs1182330004
NM_020800.3(IFT80):c.572T>A (p.Ile191Asn) rs372576954
NM_020800.3(IFT80):c.629_630del (p.Asp209_Cys210insTer) rs1307708371
NM_020800.3(IFT80):c.639+1del rs2108362424
NM_020800.3(IFT80):c.701C>G (p.Ser234Ter)
NM_020800.3(IFT80):c.710G>A (p.Trp237Ter) rs201858128
NM_020800.3(IFT80):c.847C>T (p.Gln283Ter)
NM_020800.3(IFT80):c.869dup (p.Asn290fs) rs773858865
NM_020800.3(IFT80):c.898_899del (p.Glu300fs) rs1450731316
NM_020800.3(IFT80):c.951del (p.Met318fs)
NM_020800.3(IFT80):c.972_973insNNNNNNNNTTTTTTTT (p.Asn325delinsXaaXaaXaaPhePheTer) rs2108277143
NM_025132.4(WDR19):c.3716+1G>A rs1191056931
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.746T>C (p.Phe249Ser) rs1553905326
NM_052844.4(DYNC2I2):c.1567_1582del (p.Glu523fs) rs1554770453
NM_052844.4(DYNC2I2):c.935T>C (p.Phe312Ser) rs1554771175
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
Single allele

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