ClinVar Miner

List of variants in gene combination IFT140, LOC105371046 reported by GeneDx

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Gene type:
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.1155+223C>T rs11640303 0.96635
NM_014714.4(IFT140):c.-17G>C rs1894649 0.44364
NM_014714.4(IFT140):c.148-22A>T rs2236269 0.43860
NM_014714.4(IFT140):c.-31-52T>A rs743963 0.36752
NM_014714.4(IFT140):c.147+109G>A rs7192480 0.23445
NM_014714.4(IFT140):c.491+45G>A rs2273679 0.19341
NM_014714.4(IFT140):c.635-12G>C rs12447357 0.18304
NM_014714.4(IFT140):c.147+85_147+86del rs34935994 0.08338
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile) rs34762152 0.08326
NM_014714.4(IFT140):c.370-71A>G rs112565100 0.07163
NM_014714.4(IFT140):c.148-29T>C rs59000332 0.05178
NM_014714.4(IFT140):c.148-221G>A rs2667682 0.03719
NM_014714.4(IFT140):c.148-73C>T rs2667683 0.03718
NM_014714.4(IFT140):c.811-135A>G rs6600154 0.03031
NM_014714.4(IFT140):c.1156-183A>T rs61620234 0.03011
NM_014714.4(IFT140):c.1009+58G>A rs73499722 0.03002
NM_014714.4(IFT140):c.634+182G>A rs73499725 0.02978
NM_014714.4(IFT140):c.1352C>T (p.Ala451Val) rs8060532 0.02699
NM_014714.4(IFT140):c.635-183C>T rs140583270 0.02490
NM_014714.4(IFT140):c.147+192T>C rs111286800 0.02465
NM_014714.4(IFT140):c.492-14G>A rs75359189 0.02409
NM_014714.4(IFT140):c.634+199G>A rs79509941 0.02406
NM_014714.4(IFT140):c.839G>A (p.Arg280Gln) rs35404373 0.02210
NM_014714.4(IFT140):c.838C>T (p.Arg280Trp) rs8058674 0.01985
NM_014714.4(IFT140):c.1524+3A>G rs149791451 0.00552
NM_014714.4(IFT140):c.179G>A (p.Arg60Lys) rs148093208 0.00022
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln) rs145718272 0.00021
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_014714.4(IFT140):c.1428T>A (p.Ser476Arg) rs771030841 0.00007
NM_014714.4(IFT140):c.1010-1G>A rs770185023 0.00006
NM_014714.4(IFT140):c.1040G>A (p.Arg347Gln) rs147556035 0.00006
NM_014714.4(IFT140):c.903-5T>G rs900599017 0.00004
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu) rs772757427 0.00002
NM_014714.4(IFT140):c.1321C>T (p.Arg441Cys) rs758986711 0.00001
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp) rs773768491 0.00001
NM_014714.4(IFT140):c.883G>A (p.Val295Ile) rs762792738 0.00001
NM_014714.4(IFT140):c.910G>C (p.Asp304His) rs755311835 0.00001
NM_014714.4(IFT140):c.975G>T (p.Glu325Asp) rs1330112951 0.00001
NM_014714.4(IFT140):c.142G>A (p.Glu48Lys)
NM_014714.4(IFT140):c.147+185G>A rs114832254
NM_014714.4(IFT140):c.238T>A (p.Trp80Arg) rs2035846628
NM_014714.4(IFT140):c.334A>C (p.Ser112Arg) rs780294580
NM_014714.4(IFT140):c.459G>T (p.Thr153=) rs61739554
NM_014714.4(IFT140):c.635-79T>A rs112431294
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro) rs4786350

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