ClinVar Miner

List of variants in gene IFT140 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 210
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HGVS dbSNP
NC_000016.9:g.1573955_1573957del
NM_014714.4(IFT140):c.1646C>T (p.Ser549Phe) rs751137317
NM_014714.4(IFT140):c.1649G>A (p.Arg550Gln) rs762399912
NM_014714.4(IFT140):c.1652+5A>T
NM_014714.4(IFT140):c.1677C>G (p.Cys559Trp)
NM_014714.4(IFT140):c.1707G>A (p.Val569=)
NM_014714.4(IFT140):c.1717G>T (p.Ala573Ser)
NM_014714.4(IFT140):c.1720T>C (p.Ser574Pro)
NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln) rs373111085
NM_014714.4(IFT140):c.1739G>A (p.Ser580Asn)
NM_014714.4(IFT140):c.1741G>A (p.Gly581Arg)
NM_014714.4(IFT140):c.1778A>C (p.Asn593Thr)
NM_014714.4(IFT140):c.1782C>A (p.Ser594Arg)
NM_014714.4(IFT140):c.1789T>G (p.Ser597Ala)
NM_014714.4(IFT140):c.1816A>G (p.Met606Val)
NM_014714.4(IFT140):c.1837G>A (p.Asp613Asn)
NM_014714.4(IFT140):c.1861C>T (p.Arg621Trp)
NM_014714.4(IFT140):c.1871C>T (p.Thr624Met)
NM_014714.4(IFT140):c.1876T>C (p.Ser626Pro)
NM_014714.4(IFT140):c.1891G>C (p.Glu631Gln)
NM_014714.4(IFT140):c.1901+5G>A
NM_014714.4(IFT140):c.1945G>A (p.Val649Met)
NM_014714.4(IFT140):c.1972C>T (p.Pro658Ser)
NM_014714.4(IFT140):c.1975C>T (p.Arg659Trp)
NM_014714.4(IFT140):c.1976G>A (p.Arg659Gln)
NM_014714.4(IFT140):c.2009C>T (p.Pro670Leu)
NM_014714.4(IFT140):c.2021C>T (p.Pro674Leu)
NM_014714.4(IFT140):c.2035G>A (p.Gly679Arg)
NM_014714.4(IFT140):c.2053C>T (p.Arg685Cys)
NM_014714.4(IFT140):c.2054G>A (p.Arg685His)
NM_014714.4(IFT140):c.2066C>T (p.Ala689Val)
NM_014714.4(IFT140):c.2067+4C>T
NM_014714.4(IFT140):c.2067+5G>A
NM_014714.4(IFT140):c.2067G>A (p.Ala689=)
NM_014714.4(IFT140):c.2068-3C>G
NM_014714.4(IFT140):c.2079G>C (p.Leu693Phe)
NM_014714.4(IFT140):c.2105A>G (p.Glu702Gly)
NM_014714.4(IFT140):c.2110G>A (p.Gly704Ser) rs150745099
NM_014714.4(IFT140):c.2119C>T (p.Leu707Phe)
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala) rs1057518064
NM_014714.4(IFT140):c.2177C>A (p.Pro726His)
NM_014714.4(IFT140):c.2194A>G (p.Arg732Gly)
NM_014714.4(IFT140):c.2199G>A (p.Lys733=)
NM_014714.4(IFT140):c.2259G>A (p.Met753Ile)
NM_014714.4(IFT140):c.2261T>C (p.Val754Ala)
NM_014714.4(IFT140):c.2303G>A (p.Cys768Tyr)
NM_014714.4(IFT140):c.2323G>A (p.Ala775Thr)
NM_014714.4(IFT140):c.2355A>G (p.Ile785Met)
NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly) rs144938800
NM_014714.4(IFT140):c.2366A>T (p.Asp789Val) rs1555486589
NM_014714.4(IFT140):c.2372C>G (p.Ala791Gly)
NM_014714.4(IFT140):c.2375T>C (p.Phe792Ser)
NM_014714.4(IFT140):c.2407G>A (p.Val803Ile)
NM_014714.4(IFT140):c.2426G>C (p.Arg809Pro)
NM_014714.4(IFT140):c.2432G>T (p.Cys811Phe)
NM_014714.4(IFT140):c.2434G>T (p.Val812Leu)
NM_014714.4(IFT140):c.2447G>A (p.Arg816Gln)
NM_014714.4(IFT140):c.2455G>A (p.Val819Met)
NM_014714.4(IFT140):c.2464G>A (p.Val822Met)
NM_014714.4(IFT140):c.2479A>G (p.Met827Val)
NM_014714.4(IFT140):c.2488G>A (p.Ala830Thr)
NM_014714.4(IFT140):c.2491C>T (p.Arg831Cys)
NM_014714.4(IFT140):c.2492G>A (p.Arg831His)
NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln) rs771116194
NM_014714.4(IFT140):c.2504C>T (p.Ala835Val) rs368232950
NM_014714.4(IFT140):c.2510G>A (p.Arg837His)
NM_014714.4(IFT140):c.2516C>T (p.Ala839Val)
NM_014714.4(IFT140):c.2530G>C (p.Glu844Gln)
NM_014714.4(IFT140):c.2536_2537insC (p.Glu846fs)
NM_014714.4(IFT140):c.2543G>A (p.Arg848His)
NM_014714.4(IFT140):c.2545G>A (p.Val849Met)
NM_014714.4(IFT140):c.2551G>A (p.Val851Met) rs754753583
NM_014714.4(IFT140):c.2584G>A (p.Ala862Thr)
NM_014714.4(IFT140):c.2612G>A (p.Arg871His)
NM_014714.4(IFT140):c.2617G>C (p.Asp873His)
NM_014714.4(IFT140):c.2627A>G (p.Asn876Ser)
NM_014714.4(IFT140):c.2632T>A (p.Phe878Ile)
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly) rs554196965
NM_014714.4(IFT140):c.2650C>T (p.Arg884Trp) rs554196965
NM_014714.4(IFT140):c.2651G>A (p.Arg884Gln)
NM_014714.4(IFT140):c.2689C>T (p.Arg897Cys)
NM_014714.4(IFT140):c.2690G>A (p.Arg897His)
NM_014714.4(IFT140):c.2692G>A (p.Val898Met)
NM_014714.4(IFT140):c.2701C>T (p.Arg901Cys)
NM_014714.4(IFT140):c.2714A>G (p.His905Arg)
NM_014714.4(IFT140):c.2716C>T (p.Arg906Cys)
NM_014714.4(IFT140):c.2718C>G (p.Arg906=)
NM_014714.4(IFT140):c.2741G>A (p.Ser914Asn)
NM_014714.4(IFT140):c.2746G>A (p.Asp916Asn)
NM_014714.4(IFT140):c.2756G>A (p.Arg919Gln) rs201851204
NM_014714.4(IFT140):c.2758G>T (p.Ala920Ser)
NM_014714.4(IFT140):c.2773G>A (p.Glu925Lys) rs368922367
NM_014714.4(IFT140):c.2786C>T (p.Thr929Met)
NM_014714.4(IFT140):c.2791C>T (p.Arg931Cys)
NM_014714.4(IFT140):c.2792G>A (p.Arg931His)
NM_014714.4(IFT140):c.2797G>A (p.Glu933Lys) rs1259402740
NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu)
NM_014714.4(IFT140):c.2866A>G (p.Thr956Ala)
NM_014714.4(IFT140):c.2876G>A (p.Arg959Gln)
NM_014714.4(IFT140):c.2885C>T (p.Ala962Val)
NM_014714.4(IFT140):c.2905G>A (p.Gly969Ser)
NM_014714.4(IFT140):c.2907C>T (p.Gly969=)
NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys) rs143720412
NM_014714.4(IFT140):c.2912T>C (p.Met971Thr)
NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr)
NM_014714.4(IFT140):c.2920G>A (p.Ala974Thr)
NM_014714.4(IFT140):c.2921C>T (p.Ala974Val)
NM_014714.4(IFT140):c.2935G>A (p.Glu979Lys) rs146277966
NM_014714.4(IFT140):c.2944C>T (p.Arg982Trp)
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln)
NM_014714.4(IFT140):c.2965C>T (p.Arg989Cys)
NM_014714.4(IFT140):c.2987A>G (p.Asn996Ser)
NM_014714.4(IFT140):c.2997+3A>G
NM_014714.4(IFT140):c.3052C>T (p.Arg1018Cys)
NM_014714.4(IFT140):c.3061G>A (p.Glu1021Lys) rs576458824
NM_014714.4(IFT140):c.3076G>A (p.Val1026Ile)
NM_014714.4(IFT140):c.3077T>C (p.Val1026Ala)
NM_014714.4(IFT140):c.3086C>T (p.Ala1029Val)
NM_014714.4(IFT140):c.3092A>C (p.His1031Pro)
NM_014714.4(IFT140):c.3103C>T (p.Arg1035Trp)
NM_014714.4(IFT140):c.3104G>A (p.Arg1035Gln)
NM_014714.4(IFT140):c.3131G>A (p.Arg1044His)
NM_014714.4(IFT140):c.3137G>A (p.Cys1046Tyr)
NM_014714.4(IFT140):c.3157G>A (p.Asp1053Asn)
NM_014714.4(IFT140):c.3173T>C (p.Leu1058Ser)
NM_014714.4(IFT140):c.3195G>A (p.Glu1065=)
NM_014714.4(IFT140):c.3212C>T (p.Ala1071Val)
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln)
NM_014714.4(IFT140):c.3218A>G (p.Tyr1073Cys)
NM_014714.4(IFT140):c.3226G>A (p.Glu1076Lys)
NM_014714.4(IFT140):c.3235G>A (p.Val1079Met)
NM_014714.4(IFT140):c.3251C>A (p.Ala1084Glu)
NM_014714.4(IFT140):c.3269A>G (p.Lys1090Arg)
NM_014714.4(IFT140):c.3271-5C>T
NM_014714.4(IFT140):c.3301G>A (p.Ala1101Thr)
NM_014714.4(IFT140):c.3302C>T (p.Ala1101Val)
NM_014714.4(IFT140):c.3322G>A (p.Val1108Met)
NM_014714.4(IFT140):c.3348C>A (p.Asp1116Glu)
NM_014714.4(IFT140):c.3350T>C (p.Leu1117Pro)
NM_014714.4(IFT140):c.3373C>T (p.Leu1125Phe)
NM_014714.4(IFT140):c.3382C>T (p.Arg1128Cys)
NM_014714.4(IFT140):c.3383G>A (p.Arg1128His)
NM_014714.4(IFT140):c.3394TTC[1] (p.Phe1133del)
NM_014714.4(IFT140):c.3418G>A (p.Glu1140Lys)
NM_014714.4(IFT140):c.3425C>T (p.Ala1142Val)
NM_014714.4(IFT140):c.3453+4C>T
NM_014714.4(IFT140):c.3470A>T (p.Gln1157Leu)
NM_014714.4(IFT140):c.3490A>G (p.Met1164Val) rs369425839
NM_014714.4(IFT140):c.3526G>A (p.Val1176Met)
NM_014714.4(IFT140):c.3542C>T (p.Ser1181Leu)
NM_014714.4(IFT140):c.3560C>T (p.Ser1187Leu)
NM_014714.4(IFT140):c.3562C>T (p.Arg1188Trp)
NM_014714.4(IFT140):c.3566G>A (p.Arg1189Gln) rs149837281
NM_014714.4(IFT140):c.3584T>C (p.Ile1195Thr) rs753550166
NM_014714.4(IFT140):c.3598A>G (p.Met1200Val)
NM_014714.4(IFT140):c.3601C>T (p.Arg1201Cys)
NM_014714.4(IFT140):c.3602G>T (p.Arg1201Leu)
NM_014714.4(IFT140):c.3609C>T (p.Gly1203=)
NM_014714.4(IFT140):c.3625A>G (p.Thr1209Ala)
NM_014714.4(IFT140):c.3644C>G (p.Ala1215Gly)
NM_014714.4(IFT140):c.3650A>G (p.Asn1217Ser)
NM_014714.4(IFT140):c.3668G>C (p.Arg1223Thr)
NM_014714.4(IFT140):c.3671C>T (p.Ala1224Val)
NM_014714.4(IFT140):c.3695A>G (p.Glu1232Gly)
NM_014714.4(IFT140):c.3767C>T (p.Ser1256Phe)
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln) rs571556177
NM_014714.4(IFT140):c.3788C>T (p.Pro1263Leu) rs775044452
NM_014714.4(IFT140):c.3830G>A (p.Arg1277Gln) rs756683299
NM_014714.4(IFT140):c.3833C>A (p.Ala1278Asp)
NM_014714.4(IFT140):c.3841C>G (p.Leu1281Val)
NM_014714.4(IFT140):c.3877_3879del (p.Glu1293del)
NM_014714.4(IFT140):c.3881T>C (p.Ile1294Thr)
NM_014714.4(IFT140):c.3925G>A (p.Glu1309Lys)
NM_014714.4(IFT140):c.3928G>A (p.Ala1310Thr)
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2]) rs746697405
NM_014714.4(IFT140):c.3943GCCAAG[4] (p.1315AK[4])
NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val)
NM_014714.4(IFT140):c.3995T>C (p.Leu1332Pro)
NM_014714.4(IFT140):c.4027A>G (p.Ile1343Val)
NM_014714.4(IFT140):c.4040+3G>T
NM_014714.4(IFT140):c.4041-5G>A
NM_014714.4(IFT140):c.4043C>T (p.Thr1348Met)
NM_014714.4(IFT140):c.4048A>G (p.Thr1350Ala)
NM_014714.4(IFT140):c.4104C>A (p.Asp1368Glu)
NM_014714.4(IFT140):c.4136A>G (p.Tyr1379Cys)
NM_014714.4(IFT140):c.4159G>A (p.Val1387Met)
NM_014714.4(IFT140):c.4159G>T (p.Val1387Leu)
NM_014714.4(IFT140):c.4163G>A (p.Arg1388Gln)
NM_014714.4(IFT140):c.4179G>C (p.Gln1393His)
NM_014714.4(IFT140):c.4187A>G (p.Tyr1396Cys)
NM_014714.4(IFT140):c.4201G>C (p.Glu1401Gln)
NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr)
NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln) rs113216558
NM_014714.4(IFT140):c.4208GGC[2] (p.Arg1405del)
NM_014714.4(IFT140):c.4214G>A (p.Arg1405Gln)
NM_014714.4(IFT140):c.4250C>T (p.Pro1417Leu)
NM_014714.4(IFT140):c.4267G>A (p.Val1423Met)
NM_014714.4(IFT140):c.4272C>A (p.His1424Gln)
NM_014714.4(IFT140):c.4273C>T (p.Arg1425Trp)
NM_014714.4(IFT140):c.4274G>A (p.Arg1425Gln)
NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys)
NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile)
NM_014714.4(IFT140):c.4309G>A (p.Glu1437Lys)
NM_014714.4(IFT140):c.4318C>T (p.Arg1440Cys) rs758535401
NM_014714.4(IFT140):c.4341del (p.Arg1448fs)
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys)
NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn)
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn) rs201065562
NM_014714.4(IFT140):c.4385C>T (p.Pro1462Leu)
NM_014714.4(IFT140):c.4386_4387del (p.Ter1463ArgextTer?)

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