ClinVar Miner

List of variants studied for Asphyxiating thoracic dystrophy 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 107
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020800.3(IFT80):c.1756A>T (p.Thr586Ser) rs6778728 0.31629
NM_020800.3(IFT80):c.1926+13T>C rs3737214 0.17528
NM_020800.3(IFT80):c.*42G>A rs16831149 0.16470
NM_020800.3(IFT80):c.462G>A (p.Ala154=) rs34182424 0.02371
NM_020800.3(IFT80):c.-40C>T rs79756374 0.01997
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135 0.00760
NM_020800.3(IFT80):c.2139T>C (p.Asp713=) rs16831157 0.00485
NM_020800.3(IFT80):c.371-10C>A rs188321058 0.00420
NM_020800.3(IFT80):c.*1089T>C rs181651029 0.00377
NM_020800.3(IFT80):c.*1204G>A rs144132950 0.00376
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346 0.00241
NM_020800.3(IFT80):c.880G>A (p.Val294Ile) rs148926415 0.00224
NM_020800.3(IFT80):c.777+20A>G rs192387448 0.00217
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.60G>A (p.Val20=) rs201088893 0.00051
NM_020800.3(IFT80):c.*887T>C rs537207877 0.00050
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478 0.00043
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.1093A>G (p.Thr365Ala) rs140202230 0.00023
NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys) rs201820395 0.00021
NM_020800.3(IFT80):c.933A>G (p.Thr311=) rs138798955 0.00020
NM_020800.3(IFT80):c.1826G>A (p.Arg609His) rs540494495 0.00019
NM_020800.3(IFT80):c.634T>C (p.Tyr212His) rs756009771 0.00016
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_020800.3(IFT80):c.1678A>G (p.Asn560Asp) rs202145480 0.00011
NM_020800.3(IFT80):c.879C>T (p.Val293=) rs143660757 0.00011
NM_020800.3(IFT80):c.*318C>T rs1044166523 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.*1222T>C rs888235238 0.00008
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.1205G>A (p.Arg402His) rs147955112 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.2014A>G (p.Ile672Val) rs767128122 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.*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.*1121T>C rs576160607 0.00003
NM_020800.3(IFT80):c.*937A>T rs545408223 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.*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.2225T>A (p.Leu742His) rs763284318 0.00002
NM_020800.3(IFT80):c.371T>C (p.Val124Ala) rs775678547 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.1053G>A (p.Thr351=) rs746236656 0.00001
NM_020800.3(IFT80):c.1151+13G>A rs766432950 0.00001
NM_020800.3(IFT80):c.1326C>T (p.Leu442=) rs886058131 0.00001
NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly) rs554335278 0.00001
NM_020800.3(IFT80):c.2048G>T (p.Gly683Val) rs1302753011 0.00001
NM_020800.3(IFT80):c.38-1C>G rs779785603 0.00001
NM_020800.3(IFT80):c.401C>G (p.Ser134Ter) rs1241223548 0.00001
NM_020800.3(IFT80):c.440-12T>G rs748442129 0.00001
NM_020800.3(IFT80):c.44A>G (p.Glu15Gly) rs886058134 0.00001
NM_020800.3(IFT80):c.639+5A>G rs527856744 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.1288G>A (p.Ala430Thr) rs1716375276
NM_020800.3(IFT80):c.1316-13A>C rs886058132
NM_020800.3(IFT80):c.1326C>G (p.Leu442=) rs886058131
NM_020800.3(IFT80):c.1339A>G (p.Thr447Ala) rs1715048069
NM_020800.3(IFT80):c.1381-1G>T rs1559917932
NM_020800.3(IFT80):c.1401T>C (p.Ala467=) rs1714770364
NM_020800.3(IFT80):c.1525G>T (p.Val509Leu) rs758912357
NM_020800.3(IFT80):c.1646_1648del (p.Leu549del) rs431905497
NM_020800.3(IFT80):c.1665-1del
NM_020800.3(IFT80):c.1993A>T (p.Ile665Leu) rs886058130
NM_020800.3(IFT80):c.2038C>T (p.Leu680Phe) rs747952085
NM_020800.3(IFT80):c.2205C>T (p.Tyr735=) rs886058129
NM_020800.3(IFT80):c.282G>A (p.Lys94=) rs548358266
NM_020800.3(IFT80):c.315C>G (p.His105Gln) rs137853115
NM_020800.3(IFT80):c.411dup (p.Met138fs) rs778324141
NM_020800.3(IFT80):c.483G>T (p.Lys161Asn) rs886058133
NM_020800.3(IFT80):c.617C>A (p.Ala206Asp) rs1721180241
NM_020800.3(IFT80):c.668A>G (p.Tyr223Cys) rs201223006
NM_020800.3(IFT80):c.710G>A (p.Trp237Ter) rs201858128
NM_020800.3(IFT80):c.721G>A (p.Gly241Arg) rs138004478
NM_020800.3(IFT80):c.842G>A (p.Gly281Asp) rs572058775
NM_020800.3(IFT80):c.958-1G>T rs202051267

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.