ClinVar Miner

List of variants in gene combination IFT80, TRIM59-IFT80 reported as uncertain significance for short rib dysplasia

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 346
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020800.3(IFT80):c.897G>A (p.Val299=) rs145776235 0.00156
NM_020800.3(IFT80):c.*767G>C rs146492619 0.00102
NM_020800.3(IFT80):c.*108A>G rs180992676 0.00088
NM_020800.2(IFT80):c.-183C>T rs545378240 0.00070
NM_020800.3(IFT80):c.*417A>G rs778131263 0.00051
NM_020800.3(IFT80):c.1771A>G (p.Ile591Val) rs142518115 0.00051
NM_020800.3(IFT80):c.60G>A (p.Val20=) rs201088893 0.00051
NM_020800.3(IFT80):c.*887T>C rs537207877 0.00050
NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln) rs150370681 0.00039
NM_020800.3(IFT80):c.*677A>G rs141039735 0.00031
NM_020800.3(IFT80):c.371-19T>G rs557249203 0.00027
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230 0.00023
NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys) rs201820395 0.00021
NM_020800.3(IFT80):c.1826G>A (p.Arg609His) rs540494495 0.00019
NM_020800.3(IFT80):c.912G>A (p.Glu304=) rs199575501 0.00016
NM_020800.3(IFT80):c.758G>A (p.Arg253His) rs144738877 0.00015
NM_020800.3(IFT80):c.655G>A (p.Gly219Ser) rs201365447 0.00014
NM_020800.3(IFT80):c.807T>C (p.Thr269=) rs372419950 0.00014
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) rs138081429 0.00014
NM_020800.2(IFT80):c.-392T>G rs886058139 0.00012
NM_020800.3(IFT80):c.1204C>T (p.Arg402Cys) rs190990464 0.00011
NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp) rs202145480 0.00011
NM_020800.3(IFT80):c.36G>A (p.Lys12=) rs764052178 0.00011
NM_020800.3(IFT80):c.879C>T (p.Val293=) rs143660757 0.00011
NM_020800.2(IFT80):c.-410G>T rs113776466 0.00010
NM_020800.2(IFT80):c.-376G>C rs886058138 0.00009
NM_020800.3(IFT80):c.*318C>T rs1044166523 0.00009
NM_020800.3(IFT80):c.1052C>T (p.Thr351Met) rs199778285 0.00009
NM_020800.3(IFT80):c.2289A>G (p.Gln763=) rs142438830 0.00009
NM_020800.3(IFT80):c.707C>T (p.Ala236Val) rs774857269 0.00009
NM_020800.2(IFT80):c.-243G>A rs559709322 0.00008
NM_020800.3(IFT80):c.*1222T>C rs888235238 0.00008
NM_020800.3(IFT80):c.*944A>G rs976734188 0.00008
NM_020800.3(IFT80):c.192G>T (p.Trp64Cys) rs151263345 0.00008
NM_020800.3(IFT80):c.691C>T (p.Pro231Ser) rs149447674 0.00008
NM_020800.3(IFT80):c.804C>T (p.Asn268=) rs375407595 0.00008
NM_020800.3(IFT80):c.2224-9C>T rs752574778 0.00007
NM_020800.3(IFT80):c.2100G>C (p.Arg700Ser) rs373671362 0.00006
NM_020800.3(IFT80):c.-98G>C rs375150390 0.00005
NM_020800.3(IFT80):c.1126G>C (p.Val376Leu) rs753617262 0.00005
NM_020800.3(IFT80):c.1205G>A (p.Arg402His) rs147955112 0.00005
NM_020800.3(IFT80):c.2014A>G (p.Ile672Val) rs767128122 0.00005
NM_020800.3(IFT80):c.2099+4A>G rs754398043 0.00005
NM_020800.3(IFT80):c.2156G>A (p.Arg719His) rs551983792 0.00005
NM_020800.3(IFT80):c.468C>T (p.Gly156=) rs145679417 0.00005
NM_020800.3(IFT80):c.511A>G (p.Ile171Val) rs140163837 0.00005
NM_020800.2(IFT80):c.-296G>A rs886058136 0.00004
NM_020800.3(IFT80):c.*319G>A rs949785139 0.00004
NM_020800.3(IFT80):c.1104A>T (p.Ile368=) rs369114064 0.00004
NM_020800.3(IFT80):c.209G>A (p.Gly70Asp) rs752892324 0.00004
NM_020800.3(IFT80):c.394A>C (p.Ile132Leu) rs376849101 0.00004
NM_020800.3(IFT80):c.634T>C (p.Tyr212His) rs756009771 0.00004
NM_020800.3(IFT80):c.659G>A (p.Arg220His) rs754818191 0.00004
NM_020800.3(IFT80):c.757C>T (p.Arg253Cys) rs138656118 0.00004
NM_020800.3(IFT80):c.835A>G (p.Ile279Val) rs772283130 0.00004
NM_020800.3(IFT80):c.*1121T>C rs576160607 0.00003
NM_020800.3(IFT80):c.*937A>T rs545408223 0.00003
NM_020800.3(IFT80):c.1229C>T (p.Pro410Leu) rs148396265 0.00003
NM_020800.3(IFT80):c.1292T>C (p.Ile431Thr) rs777754118 0.00003
NM_020800.3(IFT80):c.1412A>G (p.Lys471Arg) rs766798264 0.00003
NM_020800.3(IFT80):c.1413A>C (p.Lys471Asn) rs891175325 0.00003
NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro) rs137853116 0.00003
NM_020800.3(IFT80):c.370+6T>C rs754136912 0.00003
NM_020800.3(IFT80):c.571A>G (p.Ile191Val) rs376853807 0.00003
NM_020800.3(IFT80):c.*1110A>G rs981397224 0.00002
NM_020800.3(IFT80):c.*397A>G rs1354614636 0.00002
NM_020800.3(IFT80):c.1069G>A (p.Val357Met) rs530805244 0.00002
NM_020800.3(IFT80):c.1079C>T (p.Thr360Met) rs371152741 0.00002
NM_020800.3(IFT80):c.1315A>G (p.Ile439Val) rs750652226 0.00002
NM_020800.3(IFT80):c.1910A>G (p.Tyr637Cys) rs949267903 0.00002
NM_020800.3(IFT80):c.2225T>A (p.Leu742His) rs763284318 0.00002
NM_020800.3(IFT80):c.286G>A (p.Gly96Arg) rs760332663 0.00002
NM_020800.3(IFT80):c.371T>C (p.Val124Ala) rs775678547 0.00002
NM_020800.3(IFT80):c.377A>C (p.Glu126Ala) rs574860967 0.00002
NM_020800.3(IFT80):c.938C>T (p.Thr313Met) rs753478409 0.00002
NM_020800.3(IFT80):c.954G>A (p.Met318Ile) rs957922344 0.00002
NM_020800.3(IFT80):c.*102C>A rs529617151 0.00001
NM_020800.3(IFT80):c.*104G>A rs886058128 0.00001
NM_020800.3(IFT80):c.*1365C>G rs1178230972 0.00001
NM_020800.3(IFT80):c.*551A>G rs886058126 0.00001
NM_020800.3(IFT80):c.*659C>G rs560527597 0.00001
NM_020800.3(IFT80):c.*740G>T rs1012212219 0.00001
NM_020800.3(IFT80):c.*792T>G rs547025505 0.00001
NM_020800.3(IFT80):c.*797A>C rs527576092 0.00001
NM_020800.3(IFT80):c.1006A>G (p.Arg336Gly) rs775835775 0.00001
NM_020800.3(IFT80):c.1053G>A (p.Thr351=) rs746236656 0.00001
NM_020800.3(IFT80):c.1121G>A (p.Gly374Glu) rs1448235153 0.00001
NM_020800.3(IFT80):c.1151+13G>A rs766432950 0.00001
NM_020800.3(IFT80):c.1158T>A (p.Phe386Leu) rs755957651 0.00001
NM_020800.3(IFT80):c.1219C>T (p.Pro407Ser) rs1345262813 0.00001
NM_020800.3(IFT80):c.1303G>A (p.Ala435Thr) rs747879864 0.00001
NM_020800.3(IFT80):c.1316T>G (p.Ile439Arg) rs780934693 0.00001
NM_020800.3(IFT80):c.1326C>T (p.Leu442=) rs886058131 0.00001
NM_020800.3(IFT80):c.1342G>A (p.Gly448Arg) rs757507718 0.00001
NM_020800.3(IFT80):c.1376A>G (p.His459Arg) rs1351949409 0.00001
NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly) rs554335278 0.00001
NM_020800.3(IFT80):c.1522A>G (p.Met508Val) rs747457756 0.00001
NM_020800.3(IFT80):c.1546G>A (p.Asp516Asn) rs1328308378 0.00001
NM_020800.3(IFT80):c.1552T>C (p.Cys518Arg) rs1418914019 0.00001
NM_020800.3(IFT80):c.1607A>G (p.Asn536Ser) rs1299756605 0.00001
NM_020800.3(IFT80):c.1610C>G (p.Thr537Arg) rs149274965 0.00001
NM_020800.3(IFT80):c.1627G>A (p.Asp543Asn) rs535870220 0.00001
NM_020800.3(IFT80):c.1628A>G (p.Asp543Gly) rs746408528 0.00001
NM_020800.3(IFT80):c.1675A>G (p.Lys559Glu) rs1248669654 0.00001
NM_020800.3(IFT80):c.1715C>T (p.Thr572Ile) rs751538474 0.00001
NM_020800.3(IFT80):c.178A>G (p.Ile60Val) rs780018349 0.00001
NM_020800.3(IFT80):c.1836+5T>C rs373116334 0.00001
NM_020800.3(IFT80):c.1858C>G (p.Leu620Val) rs1037844686 0.00001
NM_020800.3(IFT80):c.1954A>G (p.Ile652Val) rs779103873 0.00001
NM_020800.3(IFT80):c.1997T>C (p.Leu666Pro) rs754345105 0.00001
NM_020800.3(IFT80):c.2116G>A (p.Val706Ile) rs943067730 0.00001
NM_020800.3(IFT80):c.2149G>A (p.Ala717Thr) rs370294182 0.00001
NM_020800.3(IFT80):c.2155C>T (p.Arg719Cys) rs764764460 0.00001
NM_020800.3(IFT80):c.2179G>A (p.Gly727Ser) rs977361551 0.00001
NM_020800.3(IFT80):c.2200C>T (p.Arg734Ter) rs375941259 0.00001
NM_020800.3(IFT80):c.2244A>T (p.Lys748Asn) rs769905264 0.00001
NM_020800.3(IFT80):c.2245A>G (p.Ile749Val) rs891421267 0.00001
NM_020800.3(IFT80):c.2297G>C (p.Ser766Thr) rs745522185 0.00001
NM_020800.3(IFT80):c.269A>G (p.His90Arg) rs762134619 0.00001
NM_020800.3(IFT80):c.352G>A (p.Gly118Arg) rs1193677073 0.00001
NM_020800.3(IFT80):c.38-1C>G rs779785603 0.00001
NM_020800.3(IFT80):c.44A>G (p.Glu15Gly) rs886058134 0.00001
NM_020800.3(IFT80):c.461C>T (p.Ala154Val) rs899479641 0.00001
NM_020800.3(IFT80):c.517A>C (p.Lys173Gln) rs1327849611 0.00001
NM_020800.3(IFT80):c.521C>T (p.Pro174Leu) rs554727578 0.00001
NM_020800.3(IFT80):c.599A>G (p.Asn200Ser) rs1468017879 0.00001
NM_020800.3(IFT80):c.619G>A (p.Gly207Ser) rs756838676 0.00001
NM_020800.3(IFT80):c.624A>C (p.Glu208Asp) rs1278015440 0.00001
NM_020800.3(IFT80):c.639+5A>G rs527856744 0.00001
NM_020800.3(IFT80):c.658C>T (p.Arg220Cys) rs373133351 0.00001
NM_020800.3(IFT80):c.680C>T (p.Pro227Leu) rs764107423 0.00001
NM_020800.3(IFT80):c.685G>A (p.Glu229Lys) rs1721069446 0.00001
NM_020800.3(IFT80):c.743C>T (p.Ser248Leu) rs754764834 0.00001
NM_020800.3(IFT80):c.957+15C>T rs774479207 0.00001
NM_020800.2(IFT80):c.-321A>G rs886058137
NM_020800.3(IFT80):c.*1210TA[8] rs150435844
NM_020800.3(IFT80):c.*1254C>T rs552228241
NM_020800.3(IFT80):c.*130G>C rs769437271
NM_020800.3(IFT80):c.*540A>G rs886058127
NM_020800.3(IFT80):c.*844G>T rs886058125
NM_020800.3(IFT80):c.*94A>G rs1712528091
NM_020800.3(IFT80):c.-31G>A rs886058135
NM_020800.3(IFT80):c.1001G>A (p.Arg334His)
NM_020800.3(IFT80):c.1009G>A (p.Val337Ile) rs1226978230
NM_020800.3(IFT80):c.1022C>A (p.Ser341Tyr)
NM_020800.3(IFT80):c.1028A>T (p.Asn343Ile)
NM_020800.3(IFT80):c.1030T>C (p.Tyr344His) rs2108277043
NM_020800.3(IFT80):c.1060C>A (p.Gln354Lys)
NM_020800.3(IFT80):c.1067A>G (p.Tyr356Cys)
NM_020800.3(IFT80):c.1068C>T (p.Tyr356=)
NM_020800.3(IFT80):c.1076+6C>A rs1478232526
NM_020800.3(IFT80):c.1094C>T (p.Thr365Ile) rs2108271630
NM_020800.3(IFT80):c.1102A>G (p.Ile368Val)
NM_020800.3(IFT80):c.1104A>G (p.Ile368Met) rs369114064
NM_020800.3(IFT80):c.1115A>G (p.Lys372Arg) rs2108271596
NM_020800.3(IFT80):c.1126G>A (p.Val376Ile) rs753617262
NM_020800.3(IFT80):c.1129A>G (p.Ser377Gly)
NM_020800.3(IFT80):c.1139T>A (p.Leu380Gln)
NM_020800.3(IFT80):c.1144G>A (p.Ala382Thr)
NM_020800.3(IFT80):c.1150A>G (p.Arg384Gly)
NM_020800.3(IFT80):c.118T>A (p.Trp40Arg)
NM_020800.3(IFT80):c.1198G>A (p.Glu400Lys)
NM_020800.3(IFT80):c.1208T>G (p.Phe403Cys) rs142536602
NM_020800.3(IFT80):c.1222A>G (p.Lys408Glu) rs776006563
NM_020800.3(IFT80):c.1229C>A (p.Pro410His) rs148396265
NM_020800.3(IFT80):c.1229C>G (p.Pro410Arg)
NM_020800.3(IFT80):c.1249C>A (p.Leu417Met)
NM_020800.3(IFT80):c.1283C>A (p.Thr428Asn) rs770394750
NM_020800.3(IFT80):c.1285A>G (p.Ile429Val)
NM_020800.3(IFT80):c.1286T>C (p.Ile429Thr) rs2108267139
NM_020800.3(IFT80):c.1287A>G (p.Ile429Met)
NM_020800.3(IFT80):c.1288G>A (p.Ala430Thr) rs1716375276
NM_020800.3(IFT80):c.1291A>G (p.Ile431Val)
NM_020800.3(IFT80):c.1295G>C (p.Arg432Thr) rs1716374436
NM_020800.3(IFT80):c.1297G>A (p.Asp433Asn) rs527756323
NM_020800.3(IFT80):c.1316-13A>C rs886058132
NM_020800.3(IFT80):c.1319T>C (p.Ile440Thr)
NM_020800.3(IFT80):c.131C>A (p.Thr44Asn) rs1712527833
NM_020800.3(IFT80):c.1324C>T (p.Leu442Phe) rs2108240755
NM_020800.3(IFT80):c.1333G>A (p.Ala445Thr)
NM_020800.3(IFT80):c.1339A>G (p.Thr447Ala) rs1715048069
NM_020800.3(IFT80):c.1343G>T (p.Gly448Val) rs1715047540
NM_020800.3(IFT80):c.1354G>A (p.Gly452Ser) rs1424771271
NM_020800.3(IFT80):c.135T>A (p.Ser45Arg)
NM_020800.3(IFT80):c.135T>G (p.Ser45Arg) rs762238566
NM_020800.3(IFT80):c.1381-14dup rs762163693
NM_020800.3(IFT80):c.1381-1G>T rs1559917932
NM_020800.3(IFT80):c.1389_1397del (p.Leu464_Ile466del) rs752515612
NM_020800.3(IFT80):c.1401T>C (p.Ala467=) rs1714770364
NM_020800.3(IFT80):c.1405G>T (p.Asp469Tyr) rs1210834952
NM_020800.3(IFT80):c.1406A>G (p.Asp469Gly) rs1057523840
NM_020800.3(IFT80):c.1420A>G (p.Thr474Ala) rs750126857
NM_020800.3(IFT80):c.142A>G (p.Thr48Ala) rs2108404384
NM_020800.3(IFT80):c.1436T>A (p.Ile479Asn) rs1714767611
NM_020800.3(IFT80):c.1452A>T (p.Lys484Asn) rs1714765993
NM_020800.3(IFT80):c.1468A>G (p.Ile490Val) rs1559917807
NM_020800.3(IFT80):c.1484G>A (p.Arg495Gln)
NM_020800.3(IFT80):c.1486T>C (p.Phe496Leu)
NM_020800.3(IFT80):c.1495G>A (p.Glu499Lys) rs555093543
NM_020800.3(IFT80):c.1507A>G (p.Ile503Val)
NM_020800.3(IFT80):c.1512G>T (p.Lys504Asn) rs772287249
NM_020800.3(IFT80):c.1520C>T (p.Thr507Ile) rs2108231550
NM_020800.3(IFT80):c.1525G>A (p.Val509Met) rs758912357
NM_020800.3(IFT80):c.1525G>T (p.Val509Leu) rs758912357
NM_020800.3(IFT80):c.1549A>G (p.Thr517Ala)
NM_020800.3(IFT80):c.1550C>T (p.Thr517Ile) rs1408265295
NM_020800.3(IFT80):c.1556A>G (p.Asn519Ser) rs1714628390
NM_020800.3(IFT80):c.156G>C (p.Lys52Asn)
NM_020800.3(IFT80):c.1583G>A (p.Arg528Gln)
NM_020800.3(IFT80):c.1583G>T (p.Arg528Leu)
NM_020800.3(IFT80):c.1624A>G (p.Arg542Gly)
NM_020800.3(IFT80):c.1625G>A (p.Arg542Lys) rs1027265275
NM_020800.3(IFT80):c.1655G>C (p.Arg552Thr)
NM_020800.3(IFT80):c.1689T>A (p.Ile563=)
NM_020800.3(IFT80):c.1694G>A (p.Ser565Asn) rs1714507782
NM_020800.3(IFT80):c.1717A>G (p.Ile573Val) rs371520687
NM_020800.3(IFT80):c.1726G>A (p.Ala576Thr) rs1714506395
NM_020800.3(IFT80):c.1735T>G (p.Ser579Ala)
NM_020800.3(IFT80):c.1753A>T (p.Ile585Leu) rs864622337
NM_020800.3(IFT80):c.1775T>C (p.Leu592Pro) rs2108229016
NM_020800.3(IFT80):c.1777C>T (p.His593Tyr)
NM_020800.3(IFT80):c.1831G>C (p.Val611Leu)
NM_020800.3(IFT80):c.1836G>A (p.Lys612=) rs758317567
NM_020800.3(IFT80):c.1837-3T>C rs1714373421
NM_020800.3(IFT80):c.1837-6_1837-2del rs780412409
NM_020800.3(IFT80):c.1837G>A (p.Glu613Lys)
NM_020800.3(IFT80):c.1847T>C (p.Met616Thr)
NM_020800.3(IFT80):c.1868T>C (p.Met623Thr) rs1441644666
NM_020800.3(IFT80):c.1889T>C (p.Met630Thr)
NM_020800.3(IFT80):c.1891A>G (p.Thr631Ala)
NM_020800.3(IFT80):c.1907C>T (p.Ala636Val)
NM_020800.3(IFT80):c.1913C>G (p.Ala638Gly) rs751685555
NM_020800.3(IFT80):c.1916C>T (p.Ala639Val)
NM_020800.3(IFT80):c.1918A>G (p.Ile640Val)
NM_020800.3(IFT80):c.1922G>C (p.Gly641Ala) rs758343586
NM_020800.3(IFT80):c.1926+9T>G
NM_020800.3(IFT80):c.1933A>G (p.Lys645Glu)
NM_020800.3(IFT80):c.1936G>A (p.Val646Ile)
NM_020800.3(IFT80):c.1936G>C (p.Val646Leu) rs752617502
NM_020800.3(IFT80):c.1936G>T (p.Val646Phe) rs752617502
NM_020800.3(IFT80):c.1949A>G (p.Asn650Ser)
NM_020800.3(IFT80):c.1954A>T (p.Ile652Leu)
NM_020800.3(IFT80):c.1993A>G (p.Ile665Val)
NM_020800.3(IFT80):c.1993A>T (p.Ile665Leu) rs886058130
NM_020800.3(IFT80):c.199A>G (p.Lys67Glu)
NM_020800.3(IFT80):c.2018A>G (p.Gln673Arg)
NM_020800.3(IFT80):c.2020G>A (p.Glu674Lys)
NM_020800.3(IFT80):c.2028A>C (p.Glu676Asp) rs1714347314
NM_020800.3(IFT80):c.2033T>G (p.Val678Gly) rs762893736
NM_020800.3(IFT80):c.2038C>T (p.Leu680Phe) rs747952085
NM_020800.3(IFT80):c.203G>A (p.Ser68Asn)
NM_020800.3(IFT80):c.2066T>A (p.Ile689Asn)
NM_020800.3(IFT80):c.206T>G (p.Leu69Trp) rs2108404301
NM_020800.3(IFT80):c.2083C>G (p.Leu695Val)
NM_020800.3(IFT80):c.2086T>C (p.Tyr696His)
NM_020800.3(IFT80):c.2094G>C (p.Trp698Cys) rs1273119646
NM_020800.3(IFT80):c.2099G>A (p.Arg700Lys)
NM_020800.3(IFT80):c.2132A>G (p.His711Arg)
NM_020800.3(IFT80):c.2138A>G (p.Asp713Gly) rs1713528985
NM_020800.3(IFT80):c.2174C>T (p.Thr725Ile) rs997566753
NM_020800.3(IFT80):c.2205C>T (p.Tyr735=) rs886058129
NM_020800.3(IFT80):c.2215G>A (p.Ala739Thr) rs2108209837
NM_020800.3(IFT80):c.2217A>G (p.Ala739=)
NM_020800.3(IFT80):c.2223+4_2223+7del rs751433239
NM_020800.3(IFT80):c.2224-10dup rs58665245
NM_020800.3(IFT80):c.2282G>C (p.Arg761Thr) rs112640410
NM_020800.3(IFT80):c.2302C>T (p.Gln768Ter) rs778690591
NM_020800.3(IFT80):c.230C>A (p.Ala77Glu) rs866504439
NM_020800.3(IFT80):c.2313G>T (p.Lys771Asn)
NM_020800.3(IFT80):c.2318T>C (p.Ile773Thr)
NM_020800.3(IFT80):c.2329C>T (p.Pro777Ser)
NM_020800.3(IFT80):c.239_250delinsGGGTTT (p.Phe80_Ser84delinsTrpValCys) rs1712517309
NM_020800.3(IFT80):c.24A>T (p.Leu8Phe)
NM_020800.3(IFT80):c.266T>C (p.Phe89Ser) rs965701938
NM_020800.3(IFT80):c.301A>G (p.Ser101Gly)
NM_020800.3(IFT80):c.304G>A (p.Val102Ile)
NM_020800.3(IFT80):c.317G>C (p.Cys106Ser)
NM_020800.3(IFT80):c.31C>T (p.Pro11Ser)
NM_020800.3(IFT80):c.328C>T (p.Leu110Phe)
NM_020800.3(IFT80):c.331G>A (p.Ala111Thr) rs1712114570
NM_020800.3(IFT80):c.332C>T (p.Ala111Val) rs557375681
NM_020800.3(IFT80):c.335G>A (p.Gly112Glu) rs1712113940
NM_020800.3(IFT80):c.339A>G (p.Arg113=)
NM_020800.3(IFT80):c.35A>G (p.Lys12Arg)
NM_020800.3(IFT80):c.37+6C>A rs865963221
NM_020800.3(IFT80):c.379G>T (p.Asp127Tyr) rs1711973722
NM_020800.3(IFT80):c.37C>G (p.His13Asp)
NM_020800.3(IFT80):c.403A>C (p.Lys135Gln)
NM_020800.3(IFT80):c.437A>G (p.Gln146Arg) rs2108394316
NM_020800.3(IFT80):c.440-18T>A
NM_020800.3(IFT80):c.448G>C (p.Val150Leu) rs1721845305
NM_020800.3(IFT80):c.469C>A (p.Pro157Thr) rs1721843816
NM_020800.3(IFT80):c.483G>T (p.Lys161Asn) rs886058133
NM_020800.3(IFT80):c.48A>T (p.Leu16Phe) rs2108404512
NM_020800.3(IFT80):c.514A>G (p.Ile172Val) rs2108377832
NM_020800.3(IFT80):c.515T>A (p.Ile172Asn) rs1215757424
NM_020800.3(IFT80):c.521C>G (p.Pro174Arg)
NM_020800.3(IFT80):c.548A>T (p.Gln183Leu)
NM_020800.3(IFT80):c.549+4C>G
NM_020800.3(IFT80):c.550-3_550-2del
NM_020800.3(IFT80):c.559C>T (p.His187Tyr)
NM_020800.3(IFT80):c.563A>G (p.Asp188Gly)
NM_020800.3(IFT80):c.577A>G (p.Lys193Glu)
NM_020800.3(IFT80):c.593C>T (p.Ser198Leu)
NM_020800.3(IFT80):c.601G>T (p.Asp201Tyr)
NM_020800.3(IFT80):c.612A>T (p.Leu204Phe) rs1359553849
NM_020800.3(IFT80):c.617C>A (p.Ala206Asp) rs1721180241
NM_020800.3(IFT80):c.625G>T (p.Asp209Tyr) rs2108362446
NM_020800.3(IFT80):c.627C>A (p.Asp209Glu)
NM_020800.3(IFT80):c.639G>A (p.Lys213=)
NM_020800.3(IFT80):c.640-3T>G rs1270725764
NM_020800.3(IFT80):c.640G>A (p.Val214Ile) rs1026071746
NM_020800.3(IFT80):c.64T>C (p.Trp22Arg) rs140499147
NM_020800.3(IFT80):c.650G>A (p.Ser217Asn)
NM_020800.3(IFT80):c.668A>G (p.Tyr223Cys) rs201223006
NM_020800.3(IFT80):c.679C>G (p.Pro227Ala)
NM_020800.3(IFT80):c.686A>C (p.Glu229Ala) rs1305518301
NM_020800.3(IFT80):c.698C>A (p.Thr233Asn) rs1242544327
NM_020800.3(IFT80):c.710G>A (p.Trp237Ter) rs201858128
NM_020800.3(IFT80):c.719A>C (p.Asp240Ala)
NM_020800.3(IFT80):c.736G>C (p.Val246Leu)
NM_020800.3(IFT80):c.743C>G (p.Ser248Trp) rs754764834
NM_020800.3(IFT80):c.748C>T (p.His250Tyr) rs1721060438
NM_020800.3(IFT80):c.749A>T (p.His250Leu)
NM_020800.3(IFT80):c.751A>T (p.Thr251Ser) rs2108360118
NM_020800.3(IFT80):c.758G>T (p.Arg253Leu)
NM_020800.3(IFT80):c.760T>G (p.Leu254Val)
NM_020800.3(IFT80):c.763T>C (p.Cys255Arg) rs2108360083
NM_020800.3(IFT80):c.764G>T (p.Cys255Phe) rs1325257224
NM_020800.3(IFT80):c.769A>G (p.Lys257Glu) rs1273801158
NM_020800.3(IFT80):c.777+19C>T
NM_020800.3(IFT80):c.777+5G>A rs2108360069
NM_020800.3(IFT80):c.823A>G (p.Ile275Val)
NM_020800.3(IFT80):c.824T>C (p.Ile275Thr)
NM_020800.3(IFT80):c.825T>G (p.Ile275Met)
NM_020800.3(IFT80):c.842G>A (p.Gly281Asp) rs572058775
NM_020800.3(IFT80):c.895G>A (p.Val299Met) rs1718074496
NM_020800.3(IFT80):c.896T>C (p.Val299Ala)
NM_020800.3(IFT80):c.919A>C (p.Asn307His)
NM_020800.3(IFT80):c.92G>A (p.Cys31Tyr) rs2108404468
NM_020800.3(IFT80):c.946A>G (p.Arg316Gly)
NM_020800.3(IFT80):c.949G>A (p.Ala317Thr)
NM_020800.3(IFT80):c.950C>A (p.Ala317Asp) rs1718070568
NM_020800.3(IFT80):c.952A>T (p.Met318Leu) rs1718070417
NM_020800.3(IFT80):c.956A>G (p.Gln319Arg) rs1718070086
NM_020800.3(IFT80):c.962G>A (p.Arg321His) rs766354291

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.