ClinVar Miner

List of variants in gene IFT140 reported as likely benign for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 456
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg) rs34535263 0.01269
NM_014714.4(IFT140):c.*63A>G rs149678731 0.00706
NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser) rs200876696 0.00622
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.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.3993G>C (p.Gln1331His) rs35823417 0.00168
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.1574G>C (p.Cys525Ser) rs112545558 0.00122
NM_014714.4(IFT140):c.4264G>A (p.Ala1422Thr) rs144726977 0.00104
NM_014714.4(IFT140):c.1824A>G (p.Thr608=) rs35433680 0.00094
NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys) rs141392067 0.00086
NM_014714.4(IFT140):c.4319G>A (p.Arg1440His) rs34813273 0.00086
NM_014714.4(IFT140):c.2057C>G (p.Ala686Gly) rs140941344 0.00083
NM_014714.4(IFT140):c.*403G>A rs143732634 0.00078
NM_014714.4(IFT140):c.3900C>T (p.Tyr1300=) rs148387007 0.00075
NM_014714.4(IFT140):c.2578-12C>G rs370111842 0.00071
NM_014714.4(IFT140):c.4273C>A (p.Arg1425=) rs138697817 0.00051
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325 0.00050
NM_014714.4(IFT140):c.1593G>T (p.Gly531=) rs143491016 0.00048
NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly) rs144938800 0.00048
NM_014714.4(IFT140):c.3542C>T (p.Ser1181Leu) rs145814071 0.00043
NM_014714.4(IFT140):c.3684C>T (p.Ser1228=) rs146464282 0.00043
NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln) rs113216558 0.00043
NM_014714.4(IFT140):c.2110G>A (p.Gly704Ser) rs150745099 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.2586C>T (p.Ala862=) rs148557575 0.00031
NM_014714.4(IFT140):c.3426G>A (p.Ala1142=) rs202224171 0.00029
NM_014714.4(IFT140):c.*2G>A rs144879630 0.00025
NM_014714.4(IFT140):c.3532A>G (p.Lys1178Glu) rs538114464 0.00025
NM_014714.4(IFT140):c.3173T>C (p.Leu1058Ser) rs141471091 0.00024
NM_014714.4(IFT140):c.2768+17C>T rs373280850 0.00023
NM_014714.4(IFT140):c.3271-4G>A rs200815296 0.00021
NM_014714.4(IFT140):c.4144C>T (p.Leu1382=) rs139458566 0.00021
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn) rs201065562 0.00019
NM_014714.4(IFT140):c.3543G>A (p.Ser1181=) rs377427370 0.00018
NM_014714.4(IFT140):c.2742C>T (p.Ser914=) rs374793763 0.00016
NM_014714.4(IFT140):c.3562C>T (p.Arg1188Trp) rs575196272 0.00016
NM_014714.4(IFT140):c.3718G>A (p.Val1240Met) rs114611454 0.00016
NM_014714.4(IFT140):c.3874-17G>A rs376776316 0.00016
NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr) rs202129528 0.00015
NM_014714.4(IFT140):c.2651G>A (p.Arg884Gln) rs150498538 0.00014
NM_014714.4(IFT140):c.2388G>A (p.Lys796=) rs761593016 0.00013
NM_014714.4(IFT140):c.2583C>T (p.Asp861=) rs576060920 0.00013
NM_014714.4(IFT140):c.3147C>T (p.Asn1049=) rs150129370 0.00013
NM_014714.4(IFT140):c.2551G>A (p.Val851Met) rs754753583 0.00012
NM_014714.4(IFT140):c.2768+12C>T rs756491638 0.00012
NM_014714.4(IFT140):c.1861C>T (p.Arg621Trp) rs146480546 0.00011
NM_014714.4(IFT140):c.2724C>T (p.Ala908=) rs138166567 0.00011
NM_014714.4(IFT140):c.4125C>T (p.Ile1375=) rs543475833 0.00011
NM_014714.4(IFT140):c.2399+12G>A rs762486311 0.00010
NM_014714.4(IFT140):c.1995C>T (p.Ala665=) rs200653061 0.00009
NM_014714.4(IFT140):c.2199+19C>T rs773530788 0.00009
NM_014714.4(IFT140):c.2504C>T (p.Ala835Val) rs368232950 0.00009
NM_014714.4(IFT140):c.2528C>T (p.Pro843Leu) rs774864079 0.00009
NM_014714.4(IFT140):c.2542C>T (p.Arg848Cys) rs201384469 0.00009
NM_014714.4(IFT140):c.2741G>A (p.Ser914Asn) rs369848545 0.00009
NM_014714.4(IFT140):c.2768+9G>A rs780735055 0.00009
NM_014714.4(IFT140):c.3661-7T>C rs371103301 0.00009
NM_014714.4(IFT140):c.4260G>C (p.Val1420=) rs200228341 0.00009
NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile) rs145746065 0.00009
NM_014714.4(IFT140):c.4309G>A (p.Glu1437Lys) rs201642067 0.00009
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys) rs142106374 0.00009
NM_014714.4(IFT140):c.2407G>A (p.Val803Ile) rs538791217 0.00008
NM_014714.4(IFT140):c.3466C>T (p.Leu1156=) rs28718802 0.00008
NM_014714.4(IFT140):c.3639G>A (p.Thr1213=) rs747655543 0.00008
NM_014714.4(IFT140):c.4183-20T>C rs371461352 0.00008
NM_014714.4(IFT140):c.1876T>C (p.Ser626Pro) rs200765913 0.00007
NM_014714.4(IFT140):c.1989C>T (p.Cys663=) rs781117803 0.00007
NM_014714.4(IFT140):c.4214G>A (p.Arg1405Gln) rs558519810 0.00007
NM_014714.4(IFT140):c.4298G>A (p.Arg1433His) rs138420849 0.00007
NM_014714.4(IFT140):c.2517G>A (p.Ala839=) rs767699979 0.00006
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val) rs200394007 0.00006
NM_014714.4(IFT140):c.3490A>G (p.Met1164Val) rs369425839 0.00006
NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu) rs555330165 0.00006
NM_014714.4(IFT140):c.3598A>C (p.Met1200Leu) rs566568065 0.00006
NM_014714.4(IFT140):c.4131C>T (p.Asp1377=) rs751862515 0.00006
NM_014714.4(IFT140):c.4266C>T (p.Ala1422=) rs149359139 0.00006
NM_014714.4(IFT140):c.1896T>A (p.Thr632=) rs141276689 0.00005
NM_014714.4(IFT140):c.1984G>A (p.Val662Ile) rs199758112 0.00005
NM_014714.4(IFT140):c.2544C>T (p.Arg848=) rs371008462 0.00005
NM_014714.4(IFT140):c.3660+14G>A rs571494292 0.00005
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln) rs571556177 0.00005
NM_014714.4(IFT140):c.4250C>T (p.Pro1417Leu) rs555799779 0.00005
NM_014714.4(IFT140):c.4274G>A (p.Arg1425Gln) rs150276786 0.00005
NM_014714.4(IFT140):c.1653-4G>A rs750603473 0.00004
NM_014714.4(IFT140):c.1740C>T (p.Ser580=) rs1314445049 0.00004
NM_014714.4(IFT140):c.2068-12T>G rs377366035 0.00004
NM_014714.4(IFT140):c.2400-13C>T rs558510749 0.00004
NM_014714.4(IFT140):c.2424G>A (p.Ala808=) rs375979698 0.00004
NM_014714.4(IFT140):c.2433C>T (p.Cys811=) rs756784917 0.00004
NM_014714.4(IFT140):c.2505G>A (p.Ala835=) rs147300509 0.00004
NM_014714.4(IFT140):c.2562G>A (p.Thr854=) rs750695023 0.00004
NM_014714.4(IFT140):c.2577+13C>T rs775827558 0.00004
NM_014714.4(IFT140):c.3156C>T (p.Asp1052=) rs528573485 0.00004
NM_014714.4(IFT140):c.3210G>A (p.Ala1070=) rs372233286 0.00004
NM_014714.4(IFT140):c.3235G>A (p.Val1079Met) rs146537096 0.00004
NM_014714.4(IFT140):c.3252G>A (p.Ala1084=) rs375975334 0.00004
NM_014714.4(IFT140):c.3271-5C>T rs368227090 0.00004
NM_014714.4(IFT140):c.3454-18A>G rs373222244 0.00004
NM_014714.4(IFT140):c.3454-6T>C rs765039853 0.00004
NM_014714.4(IFT140):c.3675G>T (p.Leu1225=) rs759998867 0.00004
NM_014714.4(IFT140):c.4182+15C>T rs374874160 0.00004
NM_014714.4(IFT140):c.4350G>A (p.Leu1450=) rs750381445 0.00004
NM_014714.4(IFT140):c.*429C>T rs192256907 0.00003
NM_014714.4(IFT140):c.1972C>T (p.Pro658Ser) rs778960409 0.00003
NM_014714.4(IFT140):c.2116C>T (p.Leu706=) rs201118178 0.00003
NM_014714.4(IFT140):c.2229G>A (p.Val743=) rs770298357 0.00003
NM_014714.4(IFT140):c.2304C>T (p.Cys768=) rs373923984 0.00003
NM_014714.4(IFT140):c.2577+9C>T rs764603088 0.00003
NM_014714.4(IFT140):c.2650C>T (p.Arg884Trp) rs554196965 0.00003
NM_014714.4(IFT140):c.2692G>A (p.Val898Met) rs369457143 0.00003
NM_014714.4(IFT140):c.2717G>A (p.Arg906His) rs754338217 0.00003
NM_014714.4(IFT140):c.2725G>A (p.Gly909Arg) rs201100248 0.00003
NM_014714.4(IFT140):c.2746G>A (p.Asp916Asn) rs568921640 0.00003
NM_014714.4(IFT140):c.3453+14G>A rs376739986 0.00003
NM_014714.4(IFT140):c.3645C>T (p.Ala1215=) rs778438102 0.00003
NM_014714.4(IFT140):c.3714G>A (p.Ala1238=) rs142224579 0.00003
NM_014714.4(IFT140):c.4158C>T (p.Tyr1386=) rs111494974 0.00003
NM_014714.4(IFT140):c.4263C>T (p.Asp1421=) rs138436199 0.00003
NM_014714.4(IFT140):c.4383C>T (p.Asp1461=) rs768372140 0.00003
NM_014714.4(IFT140):c.1770+13C>T rs750396462 0.00002
NM_014714.4(IFT140):c.1809T>C (p.Asp603=) rs779610741 0.00002
NM_014714.4(IFT140):c.1830C>T (p.Thr610=) rs201049966 0.00002
NM_014714.4(IFT140):c.1944C>T (p.Pro648=) rs763449097 0.00002
NM_014714.4(IFT140):c.2109C>T (p.His703=) rs375957506 0.00002
NM_014714.4(IFT140):c.2199+10C>T rs753778878 0.00002
NM_014714.4(IFT140):c.2199+13G>A rs760589428 0.00002
NM_014714.4(IFT140):c.2200-17G>C rs750260483 0.00002
NM_014714.4(IFT140):c.2200-20A>G rs760501465 0.00002
NM_014714.4(IFT140):c.2313C>T (p.Ala771=) rs763029487 0.00002
NM_014714.4(IFT140):c.2322C>T (p.Asp774=) rs546631348 0.00002
NM_014714.4(IFT140):c.2691C>T (p.Arg897=) rs776456361 0.00002
NM_014714.4(IFT140):c.2745C>T (p.Ala915=) rs770674501 0.00002
NM_014714.4(IFT140):c.3148G>A (p.Gly1050Ser) rs763140298 0.00002
NM_014714.4(IFT140):c.3270+7G>T rs773532379 0.00002
NM_014714.4(IFT140):c.3360G>A (p.Thr1120=) rs750862050 0.00002
NM_014714.4(IFT140):c.3390C>T (p.Ser1130=) rs765923171 0.00002
NM_014714.4(IFT140):c.3526G>A (p.Val1176Met) rs764946729 0.00002
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His) rs147292597 0.00002
NM_014714.4(IFT140):c.3660+12C>T rs755939601 0.00002
NM_014714.4(IFT140):c.4302C>T (p.Thr1434=) rs774573860 0.00002
NM_014714.4(IFT140):c.1527G>A (p.Gly509=) rs777713841 0.00001
NM_014714.4(IFT140):c.1554G>A (p.Ser518=) rs774109456 0.00001
NM_014714.4(IFT140):c.1563G>A (p.Glu521=) rs146356094 0.00001
NM_014714.4(IFT140):c.1602G>C (p.Leu534=) rs778106074 0.00001
NM_014714.4(IFT140):c.1611G>C (p.Gly537=) rs745415176 0.00001
NM_014714.4(IFT140):c.1644T>C (p.Leu548=) rs761146898 0.00001
NM_014714.4(IFT140):c.1652+20A>C rs1300522608 0.00001
NM_014714.4(IFT140):c.1707G>A (p.Val569=) rs1463801449 0.00001
NM_014714.4(IFT140):c.1837G>A (p.Asp613Asn) rs200208525 0.00001
NM_014714.4(IFT140):c.1856T>C (p.Ile619Thr) rs759612242 0.00001
NM_014714.4(IFT140):c.1872G>A (p.Thr624=) rs775156902 0.00001
NM_014714.4(IFT140):c.1938T>C (p.Tyr646=) rs752166799 0.00001
NM_014714.4(IFT140):c.1965G>A (p.Gln655=) rs571683311 0.00001
NM_014714.4(IFT140):c.1971G>A (p.Glu657=) rs1044429755 0.00001
NM_014714.4(IFT140):c.1974C>T (p.Pro658=) rs768412481 0.00001
NM_014714.4(IFT140):c.1977G>A (p.Arg659=) rs1165625635 0.00001
NM_014714.4(IFT140):c.2067+7T>G rs775453495 0.00001
NM_014714.4(IFT140):c.2169G>A (p.Met723Ile) rs777432507 0.00001
NM_014714.4(IFT140):c.2334C>T (p.His778=) rs774009074 0.00001
NM_014714.4(IFT140):c.2367C>T (p.Asp789=) rs757026549 0.00001
NM_014714.4(IFT140):c.2400-15C>T rs1342261365 0.00001
NM_014714.4(IFT140):c.2406C>T (p.Ala802=) rs1164268369 0.00001
NM_014714.4(IFT140):c.2529G>A (p.Pro843=) rs1045253033 0.00001
NM_014714.4(IFT140):c.2577+10G>A rs763509815 0.00001
NM_014714.4(IFT140):c.2577+16C>A rs1168134505 0.00001
NM_014714.4(IFT140):c.2589G>A (p.Glu863=) rs765470612 0.00001
NM_014714.4(IFT140):c.2619C>T (p.Asp873=) rs199762967 0.00001
NM_014714.4(IFT140):c.2646G>A (p.Ala882=) rs149265820 0.00001
NM_014714.4(IFT140):c.2661G>A (p.Glu887=) rs1287846996 0.00001
NM_014714.4(IFT140):c.2706C>T (p.Ser902=) rs533750683 0.00001
NM_014714.4(IFT140):c.2718C>G (p.Arg906=) rs780540683 0.00001
NM_014714.4(IFT140):c.2751C>T (p.Cys917=) rs368887768 0.00001
NM_014714.4(IFT140):c.2758G>T (p.Ala920Ser) rs566450108 0.00001
NM_014714.4(IFT140):c.3165C>A (p.Leu1055=) rs1189584534 0.00001
NM_014714.4(IFT140):c.3204C>T (p.Ile1068=) rs764399101 0.00001
NM_014714.4(IFT140):c.3234C>T (p.Gly1078=) rs200748918 0.00001
NM_014714.4(IFT140):c.3270+16C>T rs1482911649 0.00001
NM_014714.4(IFT140):c.3271-10G>A rs764938152 0.00001
NM_014714.4(IFT140):c.3271-17G>T rs1297843458 0.00001
NM_014714.4(IFT140):c.3303C>T (p.Ala1101=) rs771939015 0.00001
NM_014714.4(IFT140):c.3327C>T (p.Ala1109=) rs1264860860 0.00001
NM_014714.4(IFT140):c.3336C>T (p.Leu1112=) rs372114503 0.00001
NM_014714.4(IFT140):c.3399C>T (p.Phe1133=) rs902953810 0.00001
NM_014714.4(IFT140):c.3402C>T (p.Ile1134=) rs761692949 0.00001
NM_014714.4(IFT140):c.3501C>T (p.Thr1167=) rs377319314 0.00001
NM_014714.4(IFT140):c.3525C>G (p.Thr1175=) rs752664070 0.00001
NM_014714.4(IFT140):c.3596G>A (p.Cys1199Tyr) rs535064774 0.00001
NM_014714.4(IFT140):c.3669G>A (p.Arg1223=) rs2040482751 0.00001
NM_014714.4(IFT140):c.3672G>A (p.Ala1224=) rs765766910 0.00001
NM_014714.4(IFT140):c.3704C>T (p.Thr1235Met) rs767997025 0.00001
NM_014714.4(IFT140):c.3705G>A (p.Thr1235=) rs748820042 0.00001
NM_014714.4(IFT140):c.3760C>T (p.Leu1254=) rs750847611 0.00001
NM_014714.4(IFT140):c.3762G>A (p.Leu1254=) rs1387148284 0.00001
NM_014714.4(IFT140):c.3789G>A (p.Pro1263=) rs769211167 0.00001
NM_014714.4(IFT140):c.3810C>T (p.Ile1270=) rs557923123 0.00001
NM_014714.4(IFT140):c.3864T>C (p.Ala1288=) rs1181821502 0.00001
NM_014714.4(IFT140):c.3873+19A>G rs894285113 0.00001
NM_014714.4(IFT140):c.3876G>A (p.Val1292=) rs986239975 0.00001
NM_014714.4(IFT140):c.3885T>C (p.Asp1295=) rs140443906 0.00001
NM_014714.4(IFT140):c.3912C>T (p.His1304=) rs143385994 0.00001
NM_014714.4(IFT140):c.3918G>A (p.Ala1306=) rs767354864 0.00001
NM_014714.4(IFT140):c.3966C>T (p.Pro1322=) rs181794285 0.00001
NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val) rs376151586 0.00001
NM_014714.4(IFT140):c.4026C>T (p.Phe1342=) rs776522454 0.00001
NM_014714.4(IFT140):c.4040+20G>A rs758371286 0.00001
NM_014714.4(IFT140):c.4041-6C>T rs1596295050 0.00001
NM_014714.4(IFT140):c.4044G>A (p.Thr1348=) rs1034482228 0.00001
NM_014714.4(IFT140):c.4056C>T (p.Asp1352=) rs140265753 0.00001
NM_014714.4(IFT140):c.4146G>A (p.Leu1382=) rs904518816 0.00001
NM_014714.4(IFT140):c.4182+18C>G rs371900494 0.00001
NM_014714.4(IFT140):c.4183-16T>G rs759566930 0.00001
NM_014714.4(IFT140):c.4195C>T (p.Leu1399=) rs910636195 0.00001
NM_014714.4(IFT140):c.4200G>A (p.Glu1400=) rs986247813 0.00001
NM_014714.4(IFT140):c.4251G>A (p.Pro1417=) rs773095902 0.00001
NM_014714.4(IFT140):c.4257C>T (p.Ala1419=) rs535810761 0.00001
NM_014714.4(IFT140):c.4278G>T (p.Gly1426=) rs200161877 0.00001
NM_014714.4(IFT140):c.4338C>T (p.Asp1446=) rs779634878 0.00001
NM_014714.4(IFT140):c.4362G>T (p.Val1454=) rs763213109 0.00001
NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn) rs777181948 0.00001
NM_014714.4(IFT140):c.1525-19T>C
NM_014714.4(IFT140):c.1525-74_1525-14del
NM_014714.4(IFT140):c.1530T>C (p.Thr510=) rs2141634694
NM_014714.4(IFT140):c.1541_1542delinsAA (p.Leu514Gln) rs886043802
NM_014714.4(IFT140):c.1593G>A (p.Gly531=)
NM_014714.4(IFT140):c.1600C>T (p.Leu534=) rs747185980
NM_014714.4(IFT140):c.1605T>C (p.Val535=)
NM_014714.4(IFT140):c.1623T>G (p.Ala541=) rs1269165048
NM_014714.4(IFT140):c.1652+18A>G
NM_014714.4(IFT140):c.1652+20_1652+33del rs2141632142
NM_014714.4(IFT140):c.1652+8T>G rs2141632572
NM_014714.4(IFT140):c.1653-10C>G rs2141597092
NM_014714.4(IFT140):c.1653-10del rs760597633
NM_014714.4(IFT140):c.1653-12del rs1466360910
NM_014714.4(IFT140):c.1653-4G>T rs750603473
NM_014714.4(IFT140):c.1653-7C>G
NM_014714.4(IFT140):c.1656G>A (p.Glu552=) rs1188167246
NM_014714.4(IFT140):c.1677C>T (p.Cys559=)
NM_014714.4(IFT140):c.1689G>A (p.Ala563=)
NM_014714.4(IFT140):c.1707G>C (p.Val569=)
NM_014714.4(IFT140):c.1717G>A (p.Ala573Thr) rs528350505
NM_014714.4(IFT140):c.1726C>A (p.Arg576=)
NM_014714.4(IFT140):c.1734C>T (p.Ser578=)
NM_014714.4(IFT140):c.1737C>T (p.Ser579=) rs1230491407
NM_014714.4(IFT140):c.1752C>T (p.Ile584=) rs2141595363
NM_014714.4(IFT140):c.1767C>T (p.Ser589=)
NM_014714.4(IFT140):c.1770+15C>G rs374526643
NM_014714.4(IFT140):c.1770+15C>T
NM_014714.4(IFT140):c.1770+16G>A rs563911349
NM_014714.4(IFT140):c.1770+16G>T rs563911349
NM_014714.4(IFT140):c.1771-10C>T
NM_014714.4(IFT140):c.1771-5_1771-3del rs767298881
NM_014714.4(IFT140):c.1806C>T (p.Tyr602=)
NM_014714.4(IFT140):c.1866A>G (p.Arg622=)
NM_014714.4(IFT140):c.1872G>T (p.Thr624=) rs775156902
NM_014714.4(IFT140):c.1901+14T>A
NM_014714.4(IFT140):c.1901+20G>A rs2033701264
NM_014714.4(IFT140):c.1901+8T>C
NM_014714.4(IFT140):c.1902-12T>G rs2033586818
NM_014714.4(IFT140):c.1902-7C>T rs2141543589
NM_014714.4(IFT140):c.1933A>G (p.Asn645Asp) rs540658203
NM_014714.4(IFT140):c.1945G>A (p.Val649Met) rs534052238
NM_014714.4(IFT140):c.1950C>T (p.Asn650=)
NM_014714.4(IFT140):c.1998G>A (p.Val666=)
NM_014714.4(IFT140):c.2006C>T (p.Thr669Met)
NM_014714.4(IFT140):c.2007G>A (p.Thr669=)
NM_014714.4(IFT140):c.2011C>T (p.Arg671Cys)
NM_014714.4(IFT140):c.2016C>G (p.Ser672=)
NM_014714.4(IFT140):c.2046A>G (p.Gln682=)
NM_014714.4(IFT140):c.2055C>T (p.Arg685=) rs201447957
NM_014714.4(IFT140):c.2058T>C (p.Ala686=) rs2033572500
NM_014714.4(IFT140):c.2067+8C>G
NM_014714.4(IFT140):c.2068-19A>G
NM_014714.4(IFT140):c.2068-7C>G
NM_014714.4(IFT140):c.2068-7C>T
NM_014714.4(IFT140):c.2068-8T>C
NM_014714.4(IFT140):c.2068-9C>T rs767007478
NM_014714.4(IFT140):c.2136C>A (p.Pro712=)
NM_014714.4(IFT140):c.2142T>C (p.Pro714=)
NM_014714.4(IFT140):c.2151C>G (p.Ser717=)
NM_014714.4(IFT140):c.2157T>C (p.Ser719=)
NM_014714.4(IFT140):c.2160C>A (p.Leu720=) rs751181187
NM_014714.4(IFT140):c.2193A>G (p.Thr731=) rs2033435159
NM_014714.4(IFT140):c.2199+12C>T
NM_014714.4(IFT140):c.2199+20G>A
NM_014714.4(IFT140):c.2199+7A>G
NM_014714.4(IFT140):c.2200-10T>C
NM_014714.4(IFT140):c.2200-14C>T rs1206714111
NM_014714.4(IFT140):c.2203G>A (p.Glu735Lys)
NM_014714.4(IFT140):c.2214C>T (p.Asp738=)
NM_014714.4(IFT140):c.2226G>A (p.Glu742=)
NM_014714.4(IFT140):c.2232G>A (p.Glu744=)
NM_014714.4(IFT140):c.2274C>G (p.Pro758=)
NM_014714.4(IFT140):c.2316C>T (p.Thr772=)
NM_014714.4(IFT140):c.2331C>T (p.Leu777=)
NM_014714.4(IFT140):c.2337C>T (p.Phe779=)
NM_014714.4(IFT140):c.2373C>T (p.Ala791=) rs2141465212
NM_014714.4(IFT140):c.2399+19G>C rs2033191634
NM_014714.4(IFT140):c.2400-12G>A rs186193750
NM_014714.4(IFT140):c.2400-12G>C
NM_014714.4(IFT140):c.2400-16C>A
NM_014714.4(IFT140):c.2400-17C>T rs1245431866
NM_014714.4(IFT140):c.2400-4A>G rs771174483
NM_014714.4(IFT140):c.2427C>A (p.Arg809=)
NM_014714.4(IFT140):c.2434G>A (p.Val812Met)
NM_014714.4(IFT140):c.2442C>G (p.Thr814=)
NM_014714.4(IFT140):c.2446C>A (p.Arg816=) rs549813139
NM_014714.4(IFT140):c.2446C>T (p.Arg816Trp) rs549813139
NM_014714.4(IFT140):c.2475G>T (p.Gly825=)
NM_014714.4(IFT140):c.2500C>A (p.Arg834=)
NM_014714.4(IFT140):c.2517G>T (p.Ala839=)
NM_014714.4(IFT140):c.2550C>G (p.Ala850=) rs2745180
NM_014714.4(IFT140):c.2554C>T (p.Leu852=) rs779954025
NM_014714.4(IFT140):c.2565G>A (p.Gln855=)
NM_014714.4(IFT140):c.2577+11C>T
NM_014714.4(IFT140):c.2577+13del rs1487210393
NM_014714.4(IFT140):c.2577+14G>A
NM_014714.4(IFT140):c.2577+8G>T
NM_014714.4(IFT140):c.2578-10C>T
NM_014714.4(IFT140):c.2578-15A>G
NM_014714.4(IFT140):c.2578-19G>A
NM_014714.4(IFT140):c.2578-8T>C rs781483603
NM_014714.4(IFT140):c.2616C>T (p.His872=) rs761615768
NM_014714.4(IFT140):c.2628C>T (p.Asn876=)
NM_014714.4(IFT140):c.2634C>T (p.Phe878=)
NM_014714.4(IFT140):c.2646G>C (p.Ala882=)
NM_014714.4(IFT140):c.2676C>T (p.Ala892=) rs377016838
NM_014714.4(IFT140):c.2679G>A (p.Glu893=)
NM_014714.4(IFT140):c.2685C>T (p.His895=) rs762560105
NM_014714.4(IFT140):c.2694G>A (p.Val898=) rs1555478342
NM_014714.4(IFT140):c.2698C>T (p.Leu900=)
NM_014714.4(IFT140):c.2712C>T (p.Tyr904=) rs1188805365
NM_014714.4(IFT140):c.2716C>T (p.Arg906Cys) rs755504361
NM_014714.4(IFT140):c.2755C>A (p.Arg919=)
NM_014714.4(IFT140):c.2768+11C>G rs1330666788
NM_014714.4(IFT140):c.2768+15C>G rs546649507
NM_014714.4(IFT140):c.2768+15C>T rs546649507
NM_014714.4(IFT140):c.2768+16G>A
NM_014714.4(IFT140):c.2768+19G>A
NM_014714.4(IFT140):c.2768+8C>T rs1044252490
NM_014714.4(IFT140):c.3142-14C>T
NM_014714.4(IFT140):c.3189C>G (p.Ser1063=) rs2141166224
NM_014714.4(IFT140):c.3192C>T (p.Pro1064=)
NM_014714.4(IFT140):c.3195G>A (p.Glu1065=) rs2040596493
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln) rs201884886
NM_014714.4(IFT140):c.3216A>G (p.Arg1072=)
NM_014714.4(IFT140):c.3219C>T (p.Tyr1073=)
NM_014714.4(IFT140):c.3222C>T (p.Tyr1074=)
NM_014714.4(IFT140):c.3246C>T (p.Asp1082=)
NM_014714.4(IFT140):c.3270+14A>G
NM_014714.4(IFT140):c.3270+15C>G
NM_014714.4(IFT140):c.3270+17G>A
NM_014714.4(IFT140):c.3270+9T>G
NM_014714.4(IFT140):c.3271-18A>G
NM_014714.4(IFT140):c.3273T>C (p.Ala1091=)
NM_014714.4(IFT140):c.3291C>G (p.Ala1097=)
NM_014714.4(IFT140):c.3312C>T (p.Thr1104=) rs2040588187
NM_014714.4(IFT140):c.3369T>C (p.Pro1123=)
NM_014714.4(IFT140):c.3372G>A (p.Ala1124=)
NM_014714.4(IFT140):c.3375C>A (p.Leu1125=)
NM_014714.4(IFT140):c.3375C>T (p.Leu1125=) rs1478734815
NM_014714.4(IFT140):c.3381C>G (p.Ala1127=)
NM_014714.4(IFT140):c.3417C>T (p.Tyr1139=) rs572040196
NM_014714.4(IFT140):c.3420G>A (p.Glu1140=)
NM_014714.4(IFT140):c.3433C>T (p.Leu1145=)
NM_014714.4(IFT140):c.3450G>A (p.Arg1150=)
NM_014714.4(IFT140):c.3453+13C>T
NM_014714.4(IFT140):c.3453+15G>A
NM_014714.4(IFT140):c.3453+20T>G
NM_014714.4(IFT140):c.3454-19C>T
NM_014714.4(IFT140):c.3454-20C>A rs2141148514
NM_014714.4(IFT140):c.3454-4G>C
NM_014714.4(IFT140):c.3454-8C>T rs892113982
NM_014714.4(IFT140):c.3513G>A (p.Ala1171=) rs763709094
NM_014714.4(IFT140):c.3513G>T (p.Ala1171=)
NM_014714.4(IFT140):c.3525C>T (p.Thr1175=) rs752664070
NM_014714.4(IFT140):c.3528G>A (p.Val1176=)
NM_014714.4(IFT140):c.3543G>C (p.Ser1181=)
NM_014714.4(IFT140):c.3552T>C (p.Pro1184=)
NM_014714.4(IFT140):c.3561G>A (p.Ser1187=) rs769082969
NM_014714.4(IFT140):c.3561G>C (p.Ser1187=) rs769082969
NM_014714.4(IFT140):c.3562C>A (p.Arg1188=)
NM_014714.4(IFT140):c.3565C>A (p.Arg1189=)
NM_014714.4(IFT140):c.3576G>A (p.Leu1192=) rs2141147573
NM_014714.4(IFT140):c.3579G>A (p.Glu1193=)
NM_014714.4(IFT140):c.3609C>T (p.Gly1203=) rs2040497930
NM_014714.4(IFT140):c.3615C>T (p.Tyr1205=)
NM_014714.4(IFT140):c.3624C>T (p.Ala1208=)
NM_014714.4(IFT140):c.3655C>T (p.Leu1219=)
NM_014714.4(IFT140):c.3660+13C>G
NM_014714.4(IFT140):c.3660+13C>T rs767836990
NM_014714.4(IFT140):c.3661-14G>C
NM_014714.4(IFT140):c.3661-17G>A
NM_014714.4(IFT140):c.3661-20C>T rs1237006550
NM_014714.4(IFT140):c.3717C>T (p.Ser1239=)
NM_014714.4(IFT140):c.3726G>A (p.Arg1242=) rs1023280480
NM_014714.4(IFT140):c.3792G>A (p.Glu1264=)
NM_014714.4(IFT140):c.3843C>G (p.Leu1281=)
NM_014714.4(IFT140):c.3873+16G>C rs2141143932
NM_014714.4(IFT140):c.3873+17G>A
NM_014714.4(IFT140):c.3874-10A>T
NM_014714.4(IFT140):c.3874-18C>T
NM_014714.4(IFT140):c.3874-7T>C rs2141143432
NM_014714.4(IFT140):c.3874-8C>T
NM_014714.4(IFT140):c.3879G>A (p.Glu1293=) rs2040472652
NM_014714.4(IFT140):c.3909C>G (p.Ala1303=)
NM_014714.4(IFT140):c.3924C>T (p.Thr1308=)
NM_014714.4(IFT140):c.3942G>A (p.Leu1314=)
NM_014714.4(IFT140):c.3963C>T (p.Ser1321=)
NM_014714.4(IFT140):c.4020G>A (p.Lys1340=) rs759849021
NM_014714.4(IFT140):c.4040+12G>A
NM_014714.4(IFT140):c.4040+13G>C
NM_014714.4(IFT140):c.4040+14G>T
NM_014714.4(IFT140):c.4041-11G>A rs1385552425
NM_014714.4(IFT140):c.4041-11G>C
NM_014714.4(IFT140):c.4041-15C>G
NM_014714.4(IFT140):c.4041-18C>G rs373126808
NM_014714.4(IFT140):c.4041-19T>C
NM_014714.4(IFT140):c.4041-9T>C rs2141135557
NM_014714.4(IFT140):c.4059C>A (p.Pro1353=)
NM_014714.4(IFT140):c.4059C>G (p.Pro1353=)
NM_014714.4(IFT140):c.4104C>T (p.Asp1368=)
NM_014714.4(IFT140):c.4119C>T (p.Ile1373=)
NM_014714.4(IFT140):c.4143C>T (p.Phe1381=)
NM_014714.4(IFT140):c.4149G>A (p.Val1383=)
NM_014714.4(IFT140):c.4159G>A (p.Val1387Met) rs142668269
NM_014714.4(IFT140):c.4159G>T (p.Val1387Leu) rs142668269
NM_014714.4(IFT140):c.4182+14G>A
NM_014714.4(IFT140):c.4182+20C>G
NM_014714.4(IFT140):c.4183-11C>T rs776525322
NM_014714.4(IFT140):c.4183-12C>G
NM_014714.4(IFT140):c.4183-12C>T rs1486803523
NM_014714.4(IFT140):c.4183-14C>A
NM_014714.4(IFT140):c.4183-19G>A
NM_014714.4(IFT140):c.4183-21_4183-20dup
NM_014714.4(IFT140):c.4183-6C>T rs1461505278
NM_014714.4(IFT140):c.4203G>A (p.Glu1401=)
NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup) rs754312950
NM_014714.4(IFT140):c.4209G>A (p.Arg1403=)
NM_014714.4(IFT140):c.4211G>A (p.Arg1404Gln)
NM_014714.4(IFT140):c.4221C>A (p.Pro1407=) rs544908970
NM_014714.4(IFT140):c.4227C>G (p.Ala1409=) rs143920103
NM_014714.4(IFT140):c.4227C>T (p.Ala1409=)
NM_014714.4(IFT140):c.4242C>T (p.Tyr1414=)
NM_014714.4(IFT140):c.4254G>A (p.Gln1418=)
NM_014714.4(IFT140):c.4278G>A (p.Gly1426=)
NM_014714.4(IFT140):c.4299C>G (p.Arg1433=)
NM_014714.4(IFT140):c.4308C>T (p.Pro1436=)
NM_014714.4(IFT140):c.4320C>T (p.Arg1440=)
NM_014714.4(IFT140):c.4388G>A (p.Ter1463=) rs1299854506

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