ClinVar Miner

List of variants in gene IFT140, LOC126862260 studied for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.2768+184A>G rs2745178 0.97367
NM_014714.4(IFT140):c.2919C>T (p.Ala973=) rs2235640 0.19119
NM_014714.4(IFT140):c.2988T>C (p.Asn996=) rs78178397 0.00290
NM_014714.4(IFT140):c.3079G>A (p.Gly1027Arg) rs137995818 0.00236
NM_014714.4(IFT140):c.3141+14G>A rs372698828 0.00051
NM_014714.4(IFT140):c.2829G>A (p.Pro943=) rs141779807 0.00036
NM_014714.4(IFT140):c.3033G>A (p.Ala1011=) rs148625428 0.00021
NM_014714.4(IFT140):c.2787G>A (p.Thr929=) rs374661866 0.00019
NM_014714.4(IFT140):c.2922G>A (p.Ala974=) rs201864536 0.00018
NM_014714.4(IFT140):c.2935G>A (p.Glu979Lys) rs146277966 0.00014
NM_014714.4(IFT140):c.2886G>A (p.Ala962=) rs201150342 0.00013
NM_014714.4(IFT140):c.3104G>A (p.Arg1035Gln) rs138596995 0.00013
NM_014714.4(IFT140):c.2987A>G (p.Asn996Ser) rs145645423 0.00010
NM_014714.4(IFT140):c.2844C>T (p.Tyr948=) rs777036003 0.00009
NM_014714.4(IFT140):c.2920G>A (p.Ala974Thr) rs769420945 0.00009
NM_014714.4(IFT140):c.2773G>A (p.Glu925Lys) rs368922367 0.00007
NM_014714.4(IFT140):c.2786C>T (p.Thr929Met) rs757585192 0.00007
NM_014714.4(IFT140):c.2876G>A (p.Arg959Gln) rs148240226 0.00007
NM_014714.4(IFT140):c.2944C>T (p.Arg982Trp) rs142342085 0.00006
NM_014714.4(IFT140):c.2965C>T (p.Arg989Cys) rs147756729 0.00006
NM_014714.4(IFT140):c.2817G>A (p.Ser939=) rs373651150 0.00005
NM_014714.4(IFT140):c.3015C>T (p.Asn1005=) rs767092157 0.00005
NM_014714.4(IFT140):c.3087G>A (p.Ala1029=) rs139078766 0.00005
NM_014714.4(IFT140):c.2780C>T (p.Ser927Leu) rs2040655109 0.00004
NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr) rs369493147 0.00004
NM_014714.4(IFT140):c.2781G>A (p.Ser927=) rs773225207 0.00003
NM_014714.4(IFT140):c.2875C>T (p.Arg959Trp) rs537085826 0.00003
NM_014714.4(IFT140):c.2997+6G>T rs373868663 0.00003
NM_014714.4(IFT140):c.2997+9C>G rs1596304034 0.00003
NM_014714.4(IFT140):c.3103C>T (p.Arg1035Trp) rs141818893 0.00003
NM_014714.4(IFT140):c.2791C>T (p.Arg931Cys) rs778436557 0.00002
NM_014714.4(IFT140):c.2797G>A (p.Glu933Lys) rs1259402740 0.00002
NM_014714.4(IFT140):c.2816C>T (p.Ser939Leu) rs575485883 0.00002
NM_014714.4(IFT140):c.3053G>A (p.Arg1018His) rs761615924 0.00002
NM_014714.4(IFT140):c.3057G>A (p.Gln1019=) rs763551918 0.00002
NM_014714.4(IFT140):c.3061G>A (p.Glu1021Lys) rs576458824 0.00002
NM_014714.4(IFT140):c.3092A>C (p.His1031Pro) rs973440348 0.00002
NM_014714.4(IFT140):c.3137G>A (p.Cys1046Tyr) rs752148006 0.00002
NM_014714.4(IFT140):c.2788C>T (p.His930Tyr) rs747797546 0.00001
NM_014714.4(IFT140):c.2792G>A (p.Arg931His) rs200088700 0.00001
NM_014714.4(IFT140):c.2796C>T (p.Phe932=) rs765939872 0.00001
NM_014714.4(IFT140):c.2815T>C (p.Ser939Pro) rs145549969 0.00001
NM_014714.4(IFT140):c.2839C>A (p.Leu947Ile) rs2040651830 0.00001
NM_014714.4(IFT140):c.2862T>C (p.Asp954=) rs747349401 0.00001
NM_014714.4(IFT140):c.2865-5C>T rs779711939 0.00001
NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys) rs143720412 0.00001
NM_014714.4(IFT140):c.2912T>C (p.Met971Thr) rs761061336 0.00001
NM_014714.4(IFT140):c.2916C>T (p.Asp972=) rs148945612 0.00001
NM_014714.4(IFT140):c.2921C>T (p.Ala974Val) rs745576178 0.00001
NM_014714.4(IFT140):c.2926C>A (p.His976Asn) rs1285617393 0.00001
NM_014714.4(IFT140):c.2934C>T (p.Tyr978=) rs777862012 0.00001
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln) rs766316995 0.00001
NM_014714.4(IFT140):c.2966G>A (p.Arg989His) rs764492842 0.00001
NM_014714.4(IFT140):c.2970C>T (p.Ile990=) rs375635975 0.00001
NM_014714.4(IFT140):c.2984G>T (p.Gly995Val) rs772919008 0.00001
NM_014714.4(IFT140):c.2997+11C>T rs551125772 0.00001
NM_014714.4(IFT140):c.2997+3A>G rs2040628786 0.00001
NM_014714.4(IFT140):c.3006A>G (p.Gln1002=) rs142122783 0.00001
NM_014714.4(IFT140):c.3016G>A (p.Glu1006Lys) rs375292299 0.00001
NM_014714.4(IFT140):c.3027C>T (p.Asn1009=) rs768624393 0.00001
NM_014714.4(IFT140):c.3030G>A (p.Leu1010=) rs775322966 0.00001
NM_014714.4(IFT140):c.3031G>A (p.Ala1011Thr) rs1195851729 0.00001
NM_014714.4(IFT140):c.3032C>T (p.Ala1011Val) rs769499793 0.00001
NM_014714.4(IFT140):c.3048C>T (p.Leu1016=) rs753196603 0.00001
NM_014714.4(IFT140):c.3060C>T (p.Tyr1020=) rs545658252 0.00001
NM_014714.4(IFT140):c.3076G>A (p.Val1026Ile) rs779289178 0.00001
NM_014714.4(IFT140):c.3077T>C (p.Val1026Ala) rs755333071 0.00001
NM_014714.4(IFT140):c.3078C>T (p.Val1026=) rs754240716 0.00001
NM_014714.4(IFT140):c.3086C>T (p.Ala1029Val) rs757852837 0.00001
NM_014714.4(IFT140):c.3099C>T (p.Tyr1033=) rs375797184 0.00001
NM_014714.4(IFT140):c.3129C>T (p.Ile1043=) rs2040617691 0.00001
NM_014714.4(IFT140):c.3131G>A (p.Arg1044His) rs577498082 0.00001
NM_014714.4(IFT140):c.3141+13C>T rs1189568433 0.00001
NM_014714.4(IFT140):c.3141+7C>T rs754889709 0.00001
NM_014714.4(IFT140):c.2769-10_2769-8del rs747185911
NM_014714.4(IFT140):c.2769-11T>G rs1184794982
NM_014714.4(IFT140):c.2769-15C>T rs2506122800
NM_014714.4(IFT140):c.2769-1G>T
NM_014714.4(IFT140):c.2769-1del
NM_014714.4(IFT140):c.2775G>A (p.Glu925=)
NM_014714.4(IFT140):c.2800G>T (p.Val934Leu) rs1430154523
NM_014714.4(IFT140):c.2812C>G (p.Leu938Val) rs2141175204
NM_014714.4(IFT140):c.2814G>C (p.Leu938=) rs750405092
NM_014714.4(IFT140):c.2818G>A (p.Glu940Lys) rs2141175146
NM_014714.4(IFT140):c.2820G>A (p.Glu940=) rs2141175137
NM_014714.4(IFT140):c.2824C>G (p.Leu942Val) rs774563994
NM_014714.4(IFT140):c.2825T>C (p.Leu942Pro) rs2506121877
NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu) rs200561100
NM_014714.4(IFT140):c.2828_2829dup (p.Ser944fs)
NM_014714.4(IFT140):c.2829G>C (p.Pro943=) rs141779807
NM_014714.4(IFT140):c.2835G>C (p.Leu945=) rs2506121777
NM_014714.4(IFT140):c.2859G>T (p.Lys953Asn) rs2040934250
NM_014714.4(IFT140):c.2864+18G>T rs1214446154
NM_014714.4(IFT140):c.2864+19G>A rs754581420
NM_014714.4(IFT140):c.2864+19_2864+27del rs775534138
NM_014714.4(IFT140):c.2864+1G>A
NM_014714.4(IFT140):c.2864+2T>C rs2506121441
NM_014714.4(IFT140):c.2864A>C (p.Lys955Thr) rs2141174966
NM_014714.4(IFT140):c.2865-15T>C rs2506117607
NM_014714.4(IFT140):c.2865-18G>T rs925997255
NM_014714.4(IFT140):c.2865-4G>A rs113784788
NM_014714.4(IFT140):c.2865-4G>T rs113784788
NM_014714.4(IFT140):c.2865-8G>T rs894474570
NM_014714.4(IFT140):c.2866A>G (p.Thr956Ala) rs780823837
NM_014714.4(IFT140):c.2868C>A (p.Thr956=) rs1212306994
NM_014714.4(IFT140):c.2868C>T (p.Thr956=) rs1212306994
NM_014714.4(IFT140):c.2869C>T (p.Leu957=) rs1468100440
NM_014714.4(IFT140):c.2872_2875delinsGT (p.Trp958fs)
NM_014714.4(IFT140):c.2882G>A (p.Trp961Ter)
NM_014714.4(IFT140):c.2885C>T (p.Ala962Val) rs1371411242
NM_014714.4(IFT140):c.2886G>T (p.Ala962=) rs201150342
NM_014714.4(IFT140):c.2896G>A (p.Glu966Lys) rs759898401
NM_014714.4(IFT140):c.2904G>A (p.Gln968=) rs753855080
NM_014714.4(IFT140):c.2905G>A (p.Gly969Ser) rs1343112452
NM_014714.4(IFT140):c.2907C>A (p.Gly969=) rs1157630610
NM_014714.4(IFT140):c.2907C>T (p.Gly969=) rs1157630610
NM_014714.4(IFT140):c.2909A>T (p.Glu970Val) rs2141172567
NM_014714.4(IFT140):c.2909_2920del (p.Glu970_Ala973del) rs1489901262
NM_014714.4(IFT140):c.2923C>T (p.Leu975=) rs910870360
NM_014714.4(IFT140):c.2931C>T (p.Tyr977=) rs1348342883
NM_014714.4(IFT140):c.2934C>A (p.Tyr978Ter) rs777862012
NM_014714.4(IFT140):c.2940G>A (p.Leu980=)
NM_014714.4(IFT140):c.2941G>A (p.Ala981Thr)
NM_014714.4(IFT140):c.2944_2948delinsGGGG (p.Arg982fs) rs2040631802
NM_014714.4(IFT140):c.2947G>C (p.Asp983His) rs2506116345
NM_014714.4(IFT140):c.2948del (p.Asp983fs) rs2141172226
NM_014714.4(IFT140):c.2951A>G (p.His984Arg) rs2141172218
NM_014714.4(IFT140):c.2963del (p.Val988fs) rs2141172134
NM_014714.4(IFT140):c.2966G>C (p.Arg989Pro) rs764492842
NM_014714.4(IFT140):c.2970C>A (p.Ile990=) rs375635975
NM_014714.4(IFT140):c.2980C>T (p.Gln994Ter)
NM_014714.4(IFT140):c.2987del (p.Asn996fs) rs1567328510
NM_014714.4(IFT140):c.2990T>C (p.Val997Ala) rs2506115581
NM_014714.4(IFT140):c.2993A>G (p.Gln998Arg) rs2141171936
NM_014714.4(IFT140):c.2997+12G>A rs200390733
NM_014714.4(IFT140):c.2997+12G>C rs200390733
NM_014714.4(IFT140):c.2997+13C>T
NM_014714.4(IFT140):c.2997+18G>A rs1397599606
NM_014714.4(IFT140):c.2997+1G>C rs2506115448
NM_014714.4(IFT140):c.2997+20G>A rs2506115120
NM_014714.4(IFT140):c.2997+2T>C rs2506115439
NM_014714.4(IFT140):c.2997+8C>A rs372183503
NM_014714.4(IFT140):c.2997+8C>G rs372183503
NM_014714.4(IFT140):c.2998-14C>A rs986753439
NM_014714.4(IFT140):c.2998-2del rs2141171226
NM_014714.4(IFT140):c.2998-4C>T rs764678988
NM_014714.4(IFT140):c.3003G>A (p.Ala1001=) rs151293332
NM_014714.4(IFT140):c.3003G>T (p.Ala1001=) rs151293332
NM_014714.4(IFT140):c.3016G>C (p.Glu1006Gln) rs375292299
NM_014714.4(IFT140):c.3036C>T (p.Ala1012=) rs2040621844
NM_014714.4(IFT140):c.3038C>T (p.Ser1013Phe) rs2141171017
NM_014714.4(IFT140):c.3045C>T (p.His1015=) rs2141170948
NM_014714.4(IFT140):c.3052C>T (p.Arg1018Cys) rs767290624
NM_014714.4(IFT140):c.3053G>T (p.Arg1018Leu) rs761615924
NM_014714.4(IFT140):c.3059A>G (p.Tyr1020Cys) rs2506112992
NM_014714.4(IFT140):c.3060C>G (p.Tyr1020Ter) rs545658252
NM_014714.4(IFT140):c.3068AGG[2] (p.Glu1025del) rs2506112821
NM_014714.4(IFT140):c.3079G>C (p.Gly1027Arg)
NM_014714.4(IFT140):c.3080G>C (p.Gly1027Ala) rs763621164
NM_014714.4(IFT140):c.3096C>G (p.Phe1032Leu)
NM_014714.4(IFT140):c.3109C>G (p.Gln1037Glu) rs774547622
NM_014714.4(IFT140):c.3109C>T (p.Gln1037Ter) rs774547622
NM_014714.4(IFT140):c.3117C>T (p.Phe1039=) rs2141170386
NM_014714.4(IFT140):c.3123T>C (p.Asn1041=) rs2040618084
NM_014714.4(IFT140):c.3130C>T (p.Arg1044Cys) rs574483494
NM_014714.4(IFT140):c.3141+15G>C rs2506112042
NM_014714.4(IFT140):c.3141+16G>T rs2506112023
NM_014714.4(IFT140):c.3141+1G>T rs764770536

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