ClinVar Miner

List of variants in gene IFT140 reported as benign

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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.3270+19T>C rs2745176 0.96626
NM_014714.4(IFT140):c.3454-48A>G rs932391 0.45637
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410 0.42981
NM_014714.4(IFT140):c.2200-42T>C rs2235641 0.35692
NM_014714.4(IFT140):c.*59T>C rs1053730 0.34440
NM_014714.4(IFT140):c.2253T>C (p.Pro751=) rs2076436 0.30184
NM_014714.4(IFT140):c.4041-44T>C rs2076434 0.24775
NM_014714.4(IFT140):c.2067+205T>G rs28714146 0.24021
NM_014714.4(IFT140):c.3453+34C>T rs34819117 0.15720
NM_014714.4(IFT140):c.3271-53G>A rs78028801 0.10498
NM_014714.4(IFT140):c.4183-172C>T rs67356424 0.09472
NM_014714.4(IFT140):c.4040+171C>T rs67733554 0.08517
NM_014714.4(IFT140):c.2577+193G>C rs113971932 0.08333
NM_014714.4(IFT140):c.1862G>A (p.Arg621Gln) rs11648609 0.05163
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val) rs2235638 0.05119
NM_014714.4(IFT140):c.1771-236A>T rs116908844 0.05066
NM_014714.4(IFT140):c.1682G>A (p.Ser561Asn) rs8050974 0.02675
NM_014714.4(IFT140):c.1525-185C>T rs78154916 0.02506
NM_014714.4(IFT140):c.1918G>A (p.Asp640Asn) rs61742753 0.02347
NM_014714.4(IFT140):c.4380C>T (p.Asp1460=) rs61749517 0.02245
NM_014714.4(IFT140):c.2008C>T (p.Pro670Ser) rs34900355 0.02198
NM_014714.4(IFT140):c.2454C>T (p.Asp818=) rs34668993 0.01885
NM_014714.4(IFT140):c.3743T>C (p.Ile1248Thr) rs79494390 0.01709
NM_014714.4(IFT140):c.2578-157G>A rs8053047 0.01666
NM_014714.4(IFT140):c.3142-73C>G rs2076437 0.01571
NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg) rs34535263 0.01269
NM_014714.4(IFT140):c.3990G>A (p.Ala1330=) rs61745103 0.01137
NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser) rs200876696 0.00622
NM_014714.4(IFT140):c.2550C>T (p.Ala850=) rs2745180 0.00615
NM_014714.4(IFT140):c.4040+10C>T rs138364426 0.00542
NM_014714.4(IFT140):c.4040+11G>A rs144624901 0.00530
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=) rs146172074 0.00344
NM_014714.4(IFT140):c.2247C>T (p.His749=) rs9930526 0.00312
NM_014714.4(IFT140):c.1541T>A (p.Leu514His) rs150903791 0.00297
NM_014714.4(IFT140):c.1542C>A (p.Leu514=) rs141542834 0.00297
NM_014714.4(IFT140):c.1831G>A (p.Val611Ile) rs35301526 0.00228
NM_014714.4(IFT140):c.3874-11C>T rs199887622 0.00220
NM_014714.4(IFT140):c.4040+15C>G rs373703197 0.00160
NM_014714.4(IFT140):c.2067+12C>T rs201954701 0.00129
NM_014714.4(IFT140):c.2561C>T (p.Thr854Met) rs202189990 0.00109
NM_014714.4(IFT140):c.4319G>A (p.Arg1440His) rs34813273 0.00086
NM_014714.4(IFT140):c.1788T>C (p.Asp596=) rs148904634 0.00079
NM_014714.4(IFT140):c.1667A>G (p.His556Arg) rs137925718 0.00073
NM_014714.4(IFT140):c.2756G>A (p.Arg919Gln) rs201851204 0.00050
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325 0.00050
NM_014714.4(IFT140):c.*235C>A rs184405274 0.00040
NM_014714.4(IFT140):c.3661-18C>T rs575501010 0.00039
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=) rs144028766 0.00038
NM_014714.4(IFT140):c.3861C>T (p.Asp1287=) rs143899594 0.00037
NM_014714.4(IFT140):c.2768+18G>A rs143663088 0.00030
NM_014714.4(IFT140):c.3426G>A (p.Ala1142=) rs202224171 0.00029
NM_014714.4(IFT140):c.2742C>T (p.Ser914=) rs374793763 0.00016
NM_014714.4(IFT140):c.2583C>T (p.Asp861=) rs576060920 0.00013
NM_014714.4(IFT140):c.3874-10A>C rs761503137 0.00011
NM_014714.4(IFT140):c.2067+4C>T rs111785408 0.00008
NM_014714.4(IFT140):c.1653-14C>T rs148433720 0.00007
NM_014714.4(IFT140):c.2493C>T (p.Arg831=) rs745477833 0.00005
NM_014714.4(IFT140):c.2400-13C>T rs558510749 0.00004
NM_014714.4(IFT140):c.3156C>T (p.Asp1052=) rs528573485 0.00004
NM_014714.4(IFT140):c.3558G>A (p.Glu1186=) rs368713443 0.00004
NM_014714.4(IFT140):c.2661G>A (p.Glu887=) rs1287846996 0.00001
NM_014714.4(IFT140):c.1541_1542delinsAA (p.Leu514Gln) rs886043802
NM_014714.4(IFT140):c.1652+13dup
NM_014714.4(IFT140):c.1933A>G (p.Asn645Asp) rs540658203
NM_014714.4(IFT140):c.2068-29del rs113397794
NM_014714.4(IFT140):c.2068-39dup rs113397794
NM_014714.4(IFT140):c.2577+184C>T rs115039155
NM_014714.4(IFT140):c.2755C>G (p.Arg919Gly) rs548992623
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2]) rs746697405
NM_014714.4(IFT140):c.4183-188G>T rs67551650
NM_014714.4(IFT140):c.4353C>T (p.Asp1451=)

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