ClinVar Miner

List of variants in gene combination IFT80, TRIM59-IFT80 reported as uncertain significance for Asphyxiating thoracic dystrophy 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 150
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_020800.3(IFT80):c.*417A>G rs778131263 0.00051
NM_020800.3(IFT80):c.*887T>C rs537207877 0.00050
NM_020800.3(IFT80):c.60G>A (p.Val20=) rs201088893 0.00050
NM_020800.3(IFT80):c.1771A>G (p.Ile591Val) rs142518115 0.00047
NM_020800.3(IFT80):c.*677A>G rs141039735 0.00039
NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln) rs150370681 0.00038
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.758G>A (p.Arg253His) rs144738877 0.00015
NM_020800.3(IFT80):c.912G>A (p.Glu304=) rs199575501 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.*102C>A rs529617151 0.00012
NM_020800.3(IFT80):c.*797A>C rs527576092 0.00012
NM_020800.3(IFT80):c.1204C>T (p.Arg402Cys) rs190990464 0.00012
NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly) rs554335278 0.00012
NM_020800.3(IFT80):c.639+5A>G rs527856744 0.00012
NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp) rs202145480 0.00011
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) rs138081429 0.00011
NM_020800.3(IFT80):c.879C>T (p.Val293=) rs143660757 0.00011
NM_020800.3(IFT80):c.*1222T>C rs888235238 0.00010
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_020800.3(IFT80):c.*944A>G rs976734188 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.-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.2099+4A>G rs754398043 0.00005
NM_020800.3(IFT80):c.2100G>C (p.Arg700Ser) rs373671362 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_020800.3(IFT80):c.634T>C (p.Tyr212His) rs756009771 0.00005
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.650G>A (p.Ser217Asn) rs556194619 0.00004
NM_020800.3(IFT80):c.659G>A (p.Arg220His) rs754818191 0.00004
NM_020800.3(IFT80):c.*1110A>G rs981397224 0.00003
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.1068C>T (p.Tyr356=) rs774425025 0.00003
NM_020800.3(IFT80):c.1825C>T (p.Arg609Cys) rs186192085 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.377A>C (p.Glu126Ala) rs574860967 0.00003
NM_020800.3(IFT80):c.571A>G (p.Ile191Val) rs376853807 0.00003
NM_020800.3(IFT80):c.*397A>G rs1354614636 0.00002
NM_020800.3(IFT80):c.*551A>G rs886058126 0.00002
NM_020800.3(IFT80):c.371T>C (p.Val124Ala) rs775678547 0.00002
NM_020800.3(IFT80):c.593C>T (p.Ser198Leu) rs370411287 0.00002
NM_020800.3(IFT80):c.954G>A (p.Met318Ile) rs957922344 0.00002
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.*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.1053G>A (p.Thr351=) rs746236656 0.00001
NM_020800.3(IFT80):c.1069G>A (p.Val357Met) rs530805244 0.00001
NM_020800.3(IFT80):c.1151+13G>A rs766432950 0.00001
NM_020800.3(IFT80):c.1219C>T (p.Pro407Ser) rs1345262813 0.00001
NM_020800.3(IFT80):c.1326C>T (p.Leu442=) rs886058131 0.00001
NM_020800.3(IFT80):c.1484G>A (p.Arg495Gln) rs1445517798 0.00001
NM_020800.3(IFT80):c.1627G>A (p.Asp543Asn) rs535870220 0.00001
NM_020800.3(IFT80):c.1715C>T (p.Thr572Ile) rs751538474 0.00001
NM_020800.3(IFT80):c.1836+5T>C rs373116334 0.00001
NM_020800.3(IFT80):c.1918A>G (p.Ile640Val) rs141433478 0.00001
NM_020800.3(IFT80):c.1954A>G (p.Ile652Val) rs779103873 0.00001
NM_020800.3(IFT80):c.2014A>G (p.Ile672Val) rs767128122 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.44A>G (p.Glu15Gly) rs886058134 0.00001
NM_020800.3(IFT80):c.658C>T (p.Arg220Cys) rs373133351 0.00001
NM_020800.3(IFT80):c.842G>A (p.Gly281Asp) rs572058775 0.00001
NM_020800.3(IFT80):c.957+15C>T rs774479207 0.00001
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.1022C>A (p.Ser341Tyr)
NM_020800.3(IFT80):c.1067A>G (p.Tyr356Cys)
NM_020800.3(IFT80):c.1076+6C>A rs1478232526
NM_020800.3(IFT80):c.1139T>A (p.Leu380Gln)
NM_020800.3(IFT80):c.1144G>A (p.Ala382Thr)
NM_020800.3(IFT80):c.1249C>A (p.Leu417Met)
NM_020800.3(IFT80):c.1283C>A (p.Thr428Asn) rs770394750
NM_020800.3(IFT80):c.1316-13A>C rs886058132
NM_020800.3(IFT80):c.1319T>C (p.Ile440Thr) rs1559919327
NM_020800.3(IFT80):c.131C>A (p.Thr44Asn) rs1712527833
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.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.1401T>C (p.Ala467=) rs1714770364
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.1495G>A (p.Glu499Lys) rs555093543
NM_020800.3(IFT80):c.1525G>T (p.Val509Leu) rs758912357
NM_020800.3(IFT80):c.1583G>T (p.Arg528Leu)
NM_020800.3(IFT80):c.1689T>A (p.Ile563=) rs1714508262
NM_020800.3(IFT80):c.1831G>C (p.Val611Leu) rs2473106613
NM_020800.3(IFT80):c.1837-6_1837-2del rs780412409
NM_020800.3(IFT80):c.1889T>C (p.Met630Thr)
NM_020800.3(IFT80):c.1916C>T (p.Ala639Val)
NM_020800.3(IFT80):c.1933A>G (p.Lys645Glu)
NM_020800.3(IFT80):c.1936G>T (p.Val646Phe) rs752617502
NM_020800.3(IFT80):c.1993A>T (p.Ile665Leu) rs886058130
NM_020800.3(IFT80):c.199A>G (p.Lys67Glu) rs778583783
NM_020800.3(IFT80):c.2018A>G (p.Gln673Arg)
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.2205C>T (p.Tyr735=) rs886058129
NM_020800.3(IFT80):c.2217A>G (p.Ala739=)
NM_020800.3(IFT80):c.2302C>T (p.Gln768Ter) rs778690591
NM_020800.3(IFT80):c.2313G>T (p.Lys771Asn)
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.31C>T (p.Pro11Ser)
NM_020800.3(IFT80):c.328C>T (p.Leu110Phe) rs755196225
NM_020800.3(IFT80):c.339A>G (p.Arg113=)
NM_020800.3(IFT80):c.35A>G (p.Lys12Arg)
NM_020800.3(IFT80):c.483G>T (p.Lys161Asn) rs886058133
NM_020800.3(IFT80):c.521C>G (p.Pro174Arg)
NM_020800.3(IFT80):c.549+4C>G
NM_020800.3(IFT80):c.550-3_550-2del
NM_020800.3(IFT80):c.563A>G (p.Asp188Gly)
NM_020800.3(IFT80):c.577A>G (p.Lys193Glu)
NM_020800.3(IFT80):c.617C>A (p.Ala206Asp) rs1721180241
NM_020800.3(IFT80):c.639G>A (p.Lys213=)
NM_020800.3(IFT80):c.64T>C (p.Trp22Arg) rs140499147
NM_020800.3(IFT80):c.668A>G (p.Tyr223Cys) rs201223006
NM_020800.3(IFT80):c.679C>G (p.Pro227Ala)
NM_020800.3(IFT80):c.758G>T (p.Arg253Leu)
NM_020800.3(IFT80):c.823A>G (p.Ile275Val)
NM_020800.3(IFT80):c.919A>C (p.Asn307His) rs2473265786
NM_020800.3(IFT80):c.946A>G (p.Arg316Gly)

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.