ClinVar Miner

List of variants in gene IFT80, TRIM59-IFT80 studied for abdominal and pelvic region disorder

Included ClinVar conditions (891):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP
NM_020800.2(IFT80):c.*104G>A rs886058128
NM_020800.2(IFT80):c.*1222_*1223dupTA rs150435844
NM_020800.2(IFT80):c.*42G>A rs16831149
NM_020800.2(IFT80):c.*540A>G rs886058127
NM_020800.2(IFT80):c.*551A>G rs886058126
NM_020800.2(IFT80):c.*677A>G rs141039735
NM_020800.2(IFT80):c.*767G>C rs146492619
NM_020800.2(IFT80):c.*844G>T rs886058125
NM_020800.2(IFT80):c.*937A>T rs545408223
NM_020800.2(IFT80):c.-183C>T rs545378240
NM_020800.2(IFT80):c.-243G>A rs559709322
NM_020800.2(IFT80):c.-296G>A rs886058136
NM_020800.2(IFT80):c.-31G>A rs886058135
NM_020800.2(IFT80):c.-321A>G rs886058137
NM_020800.2(IFT80):c.-376G>C rs886058138
NM_020800.2(IFT80):c.-392T>G rs886058139
NM_020800.2(IFT80):c.-40C>T rs79756374
NM_020800.2(IFT80):c.-410G>T rs113776466
NM_020800.2(IFT80):c.-98G>C rs375150390
NM_020800.2(IFT80):c.1053G>A (p.Thr351=) rs746236656
NM_020800.2(IFT80):c.1069G>A (p.Val357Met) rs530805244
NM_020800.2(IFT80):c.1076C>T (p.Ser359Phe) rs144099135
NM_020800.2(IFT80):c.1093A>G (p.Thr365Ala) rs140202230
NM_020800.2(IFT80):c.1126G>A (p.Val376Ile) rs753617262
NM_020800.2(IFT80):c.1126G>C (p.Val376Leu) rs753617262
NM_020800.2(IFT80):c.1205G>A (p.Arg402His) rs147955112
NM_020800.2(IFT80):c.1316-13A>C rs886058132
NM_020800.2(IFT80):c.1326C>T (p.Leu442=) rs886058131
NM_020800.2(IFT80):c.1561C>T (p.Leu521Phe) rs1553753582
NM_020800.2(IFT80):c.1646_1648delTAT (p.Leu549del) rs431905497
NM_020800.2(IFT80):c.1678A>G (p.Asn560Asp) rs202145480
NM_020800.2(IFT80):c.1753A>T (p.Ile585Leu) rs864622337
NM_020800.2(IFT80):c.1756A>T (p.Thr586Ser) rs6778728
NM_020800.2(IFT80):c.1883G>A (p.Arg628Gln) rs150370681
NM_020800.2(IFT80):c.1926+13T>C rs3737214
NM_020800.2(IFT80):c.1993A>T (p.Ile665Leu) rs886058130
NM_020800.2(IFT80):c.2014A>G (p.Ile672Val) rs767128122
NM_020800.2(IFT80):c.2101G>C (p.Ala701Pro) rs137853116
NM_020800.2(IFT80):c.2149G>A (p.Ala717Thr) rs370294182
NM_020800.2(IFT80):c.2158C>A (p.Gln720Lys) rs201820395
NM_020800.2(IFT80):c.2205C>T (p.Tyr735=) rs886058129
NM_020800.2(IFT80):c.2223+4_2223+7delAGTA rs751433239
NM_020800.2(IFT80):c.2224-10delT rs58665245
NM_020800.2(IFT80):c.2224-10dupT rs58665245
NM_020800.2(IFT80):c.2289A>G (p.Gln763=) rs142438830
NM_020800.2(IFT80):c.282G>A (p.Lys94=) rs548358266
NM_020800.2(IFT80):c.315C>G (p.His105Gln) rs137853115
NM_020800.2(IFT80):c.370+6T>C rs754136912
NM_020800.2(IFT80):c.371-10C>A rs188321058
NM_020800.2(IFT80):c.44A>G (p.Glu15Gly) rs886058134
NM_020800.2(IFT80):c.462G>A (p.Ala154=) rs34182424
NM_020800.2(IFT80):c.483G>T (p.Lys161Asn) rs886058133
NM_020800.2(IFT80):c.487_490delCTTT (p.Leu163Ilefs) rs1553764834
NM_020800.2(IFT80):c.572T>A (p.Ile191Asn) rs372576954
NM_020800.2(IFT80):c.60G>A (p.Val20=) rs201088893
NM_020800.2(IFT80):c.634T>C (p.Tyr212His) rs756009771
NM_020800.2(IFT80):c.707C>T (p.Ala236Val) rs774857269
NM_020800.2(IFT80):c.710G>A (p.Trp237Ter) rs201858128
NM_020800.2(IFT80):c.721G>A (p.Gly241Arg) rs138004478
NM_020800.2(IFT80):c.721G>C (p.Gly241Arg) rs138004478
NM_020800.2(IFT80):c.807T>C (p.Thr269=) rs372419950
NM_020800.2(IFT80):c.869A>G (p.Asn290Ser) rs138081429
NM_020800.2(IFT80):c.880G>A (p.Val294Ile) rs148926415
NM_020800.2(IFT80):c.897G>A (p.Val299=) rs145776235
NM_020800.2(IFT80):c.933A>G (p.Thr311=) rs138798955
NM_020800.2(IFT80):c.938C>T (p.Thr313Met) rs753478409
NM_020800.3(IFT80):c.1381-1G>T
NM_020800.3(IFT80):c.38-1C>G

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