ClinVar Miner

List of variants in gene combination IFT80, TRIM59-IFT80 reported as benign

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Gene type:
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_020800.3(IFT80):c.778-177C>T rs2152425 0.58214
NM_020800.3(IFT80):c.1151+22C>T rs4680576 0.52429
NM_020800.3(IFT80):c.1076+213C>T rs6791056 0.40095
NM_020800.3(IFT80):c.1076+164G>A rs6790951 0.40093
NM_020800.3(IFT80):c.2099+149A>G rs10936199 0.31664
NM_020800.3(IFT80):c.1756A>T (p.Thr586Ser) rs6778728 0.31629
NM_020800.3(IFT80):c.1316-21A>G rs2275151 0.19381
NM_020800.3(IFT80):c.1926+13T>C rs3737214 0.17528
NM_020800.3(IFT80):c.*42G>A rs16831149 0.15568
NM_020800.3(IFT80):c.370+198C>A rs62272197 0.08093
NM_020800.3(IFT80):c.1380+144C>T rs2275150 0.07974
NM_020800.3(IFT80):c.639+171C>T rs62272195 0.04694
NM_020800.3(IFT80):c.1315+29C>G rs9637414 0.04558
NM_020800.3(IFT80):c.958-63C>T rs2275153 0.04557
NM_020800.3(IFT80):c.-46-213T>A rs60668380 0.03307
NM_020800.3(IFT80):c.370+231C>T rs73154564 0.02937
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 0.00742
NM_020800.3(IFT80):c.2139T>C (p.Asp713=) rs16831157 0.00485
NM_020800.3(IFT80):c.371-10C>A rs188321058 0.00425
NM_020800.3(IFT80):c.*1204G>A rs144132950 0.00376
NM_020800.3(IFT80):c.1076+9C>G rs139408398 0.00255
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.550-18T>C rs150600821 0.00128
NM_020800.3(IFT80):c.60G>A (p.Val20=) rs201088893 0.00050
NM_020800.3(IFT80):c.937A>G (p.Thr313Ala) rs146065418 0.00048
NM_020800.3(IFT80):c.282G>A (p.Lys94=) rs548358266 0.00026
NM_020800.3(IFT80):c.933A>G (p.Thr311=) rs138798955 0.00020
NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly) rs554335278 0.00012
NM_020800.3(IFT80):c.13A>C (p.Ile5Leu) rs184680258 0.00011
NM_020800.3(IFT80):c.259+18A>G rs555123804 0.00011
NM_020800.3(IFT80):c.879C>T (p.Val293=) rs143660757 0.00011
NM_020800.3(IFT80):c.549+16T>C rs554487138 0.00003
NM_020800.3(IFT80):c.958-8T>C rs752430715 0.00002
NM_020800.3(IFT80):c.1755A>C (p.Ile585=) rs533163415 0.00001
NM_020800.3(IFT80):c.1381-14dup rs762163693
NM_020800.3(IFT80):c.1665-7del rs769406658
NM_020800.3(IFT80):c.1665-7dup rs769406658
NM_020800.3(IFT80):c.1836+123del rs200445193
NM_020800.3(IFT80):c.2224-10del rs58665245
NM_020800.3(IFT80):c.2224-10dup rs58665245
NM_020800.3(IFT80):c.2224-19_2224-18dup rs58665245
NM_020800.3(IFT80):c.371-11del rs34613811
NM_020800.3(IFT80):c.371-11dup rs34613811
NM_020800.3(IFT80):c.38-150dup rs111650677
NM_020800.3(IFT80):c.440-18del rs199675485
NM_020800.3(IFT80):c.440-27dup rs199675485

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