ClinVar Miner

List of variants in gene IFT140 studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 359
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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.*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.1862G>A (p.Arg621Gln) rs11648609 0.05163
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val) rs2235638 0.05119
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.4040+11G>A rs144624901 0.00530
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.4297C>T (p.Arg1433Cys) rs141392067 0.00086
NM_014714.4(IFT140):c.3900C>T (p.Tyr1300=) rs148387007 0.00075
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325 0.00050
NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly) rs144938800 0.00048
NM_014714.4(IFT140):c.2067G>A (p.Ala689=) rs143537808 0.00043
NM_014714.4(IFT140):c.3542C>T (p.Ser1181Leu) rs145814071 0.00043
NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln) rs113216558 0.00043
NM_014714.4(IFT140):c.3661-18C>T rs575501010 0.00039
NM_014714.4(IFT140):c.3426G>A (p.Ala1142=) rs202224171 0.00029
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.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.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.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.1861C>T (p.Arg621Trp) rs146480546 0.00011
NM_014714.4(IFT140):c.3383G>A (p.Arg1128His) rs147661907 0.00011
NM_014714.4(IFT140):c.3668G>C (p.Arg1223Thr) rs751861503 0.00011
NM_014714.4(IFT140):c.1975C>T (p.Arg659Trp) rs749099710 0.00010
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
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.2528C>T (p.Pro843Leu) rs774864079 0.00009
NM_014714.4(IFT140):c.2542C>T (p.Arg848Cys) rs201384469 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.1646C>T (p.Ser549Phe) rs751137317 0.00008
NM_014714.4(IFT140):c.2407G>A (p.Val803Ile) rs538791217 0.00008
NM_014714.4(IFT140):c.2543G>A (p.Arg848His) rs746743309 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.2067+5G>A rs370629233 0.00007
NM_014714.4(IFT140):c.2079G>C (p.Leu693Phe) rs137966471 0.00007
NM_014714.4(IFT140):c.4318C>T (p.Arg1440Cys) rs758535401 0.00007
NM_014714.4(IFT140):c.2399+1G>T rs376586707 0.00006
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val) rs200394007 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.3939C>A (p.Cys1313Ter) rs1002670900 0.00006
NM_014714.4(IFT140):c.4379A>G (p.Asp1460Gly) rs771632573 0.00006
NM_014714.4(IFT140):c.1976G>A (p.Arg659Gln) rs780189760 0.00005
NM_014714.4(IFT140):c.1984G>A (p.Val662Ile) rs199758112 0.00005
NM_014714.4(IFT140):c.2491C>T (p.Arg831Cys) rs774690522 0.00005
NM_014714.4(IFT140):c.3382C>T (p.Arg1128Cys) rs368830697 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.4274G>A (p.Arg1425Gln) rs150276786 0.00005
NM_014714.4(IFT140):c.1653-4G>A rs750603473 0.00004
NM_014714.4(IFT140):c.1726C>T (p.Arg576Trp) rs757678246 0.00004
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys) rs387907192 0.00004
NM_014714.4(IFT140):c.2044C>A (p.Gln682Lys) rs371064856 0.00004
NM_014714.4(IFT140):c.2066C>T (p.Ala689Val) rs147290396 0.00004
NM_014714.4(IFT140):c.2119C>T (p.Leu707Phe) rs141172132 0.00004
NM_014714.4(IFT140):c.2400-13C>T rs558510749 0.00004
NM_014714.4(IFT140):c.2433C>T (p.Cys811=) rs756784917 0.00004
NM_014714.4(IFT140):c.2492G>A (p.Arg831His) rs769046641 0.00004
NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln) rs771116194 0.00004
NM_014714.4(IFT140):c.2516C>T (p.Ala839Val) rs145609033 0.00004
NM_014714.4(IFT140):c.3156C>T (p.Asp1052=) rs528573485 0.00004
NM_014714.4(IFT140):c.3193G>A (p.Glu1065Lys) rs373564205 0.00004
NM_014714.4(IFT140):c.3235G>A (p.Val1079Met) rs146537096 0.00004
NM_014714.4(IFT140):c.3271-5C>T rs368227090 0.00004
NM_014714.4(IFT140):c.3408C>G (p.His1136Gln) rs374602347 0.00004
NM_014714.4(IFT140):c.3695A>G (p.Glu1232Gly) rs774000109 0.00004
NM_014714.4(IFT140):c.3830G>A (p.Arg1277Gln) rs756683299 0.00004
NM_014714.4(IFT140):c.3881T>C (p.Ile1294Thr) rs539917190 0.00004
NM_014714.4(IFT140):c.4037G>A (p.Arg1346His) rs144050063 0.00004
NM_014714.4(IFT140):c.4377_4378insA (p.Asp1460fs) rs753109181 0.00004
NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln) rs373111085 0.00003
NM_014714.4(IFT140):c.1901+1G>T rs375910993 0.00003
NM_014714.4(IFT140):c.1972C>T (p.Pro658Ser) rs778960409 0.00003
NM_014714.4(IFT140):c.2035G>A (p.Gly679Arg) rs769632242 0.00003
NM_014714.4(IFT140):c.2138G>A (p.Arg713Gln) rs200440483 0.00003
NM_014714.4(IFT140):c.2425C>T (p.Arg809Cys) rs755748472 0.00003
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys) rs767213195 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.2743G>A (p.Ala915Thr) rs529397200 0.00003
NM_014714.4(IFT140):c.2746G>A (p.Asp916Asn) rs568921640 0.00003
NM_014714.4(IFT140):c.3560C>T (p.Ser1187Leu) rs952706482 0.00003
NM_014714.4(IFT140):c.3719T>C (p.Val1240Ala) rs149521576 0.00003
NM_014714.4(IFT140):c.4041-5G>A rs754813435 0.00003
NM_014714.4(IFT140):c.4383C>T (p.Asp1461=) rs768372140 0.00003
NM_014714.4(IFT140):c.4385C>T (p.Pro1462Leu) rs1198844614 0.00003
NM_014714.4(IFT140):c.2200-20A>G rs760501465 0.00002
NM_014714.4(IFT140):c.2372C>G (p.Ala791Gly) rs758544371 0.00002
NM_014714.4(IFT140):c.2423C>T (p.Ala808Val) rs748463111 0.00002
NM_014714.4(IFT140):c.2632T>A (p.Phe878Ile) rs1396499118 0.00002
NM_014714.4(IFT140):c.2691C>T (p.Arg897=) rs776456361 0.00002
NM_014714.4(IFT140):c.2701C>T (p.Arg901Cys) rs778004145 0.00002
NM_014714.4(IFT140):c.2702G>A (p.Arg901His) rs374245105 0.00002
NM_014714.4(IFT140):c.3148G>A (p.Gly1050Ser) rs763140298 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.3625A>G (p.Thr1209Ala) rs1464318641 0.00002
NM_014714.4(IFT140):c.3660+12C>T rs755939601 0.00002
NM_014714.4(IFT140):c.3671C>T (p.Ala1224Val) rs369161842 0.00002
NM_014714.4(IFT140):c.3713C>T (p.Ala1238Val) rs757122561 0.00002
NM_014714.4(IFT140):c.3875T>C (p.Val1292Ala) rs138311751 0.00002
NM_014714.4(IFT140):c.3925G>A (p.Glu1309Lys) rs756142477 0.00002
NM_014714.4(IFT140):c.3995T>C (p.Leu1332Pro) rs902428763 0.00002
NM_014714.4(IFT140):c.4043C>T (p.Thr1348Met) rs557586568 0.00002
NM_014714.4(IFT140):c.4302C>T (p.Thr1434=) rs774573860 0.00002
NM_014714.4(IFT140):c.1559C>T (p.Thr520Ile) rs1321089981 0.00001
NM_014714.4(IFT140):c.1778A>C (p.Asn593Thr) rs775630184 0.00001
NM_014714.4(IFT140):c.1807G>A (p.Asp603Asn) rs138674110 0.00001
NM_014714.4(IFT140):c.1869G>C (p.Glu623Asp) rs2033705618 0.00001
NM_014714.4(IFT140):c.1901+5G>A rs999790368 0.00001
NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter) rs770731272 0.00001
NM_014714.4(IFT140):c.2053C>T (p.Arg685Cys) rs778368172 0.00001
NM_014714.4(IFT140):c.2054G>A (p.Arg685His) rs370263158 0.00001
NM_014714.4(IFT140):c.2242C>T (p.His748Tyr) rs760427350 0.00001
NM_014714.4(IFT140):c.2279G>A (p.Arg760Gln) rs780086795 0.00001
NM_014714.4(IFT140):c.2318G>A (p.Arg773Gln) rs140458893 0.00001
NM_014714.4(IFT140):c.2367C>T (p.Asp789=) rs757026549 0.00001
NM_014714.4(IFT140):c.2447G>A (p.Arg816Gln) rs536061072 0.00001
NM_014714.4(IFT140):c.2455G>A (p.Val819Met) rs766515079 0.00001
NM_014714.4(IFT140):c.2509C>T (p.Arg837Cys) rs754073086 0.00001
NM_014714.4(IFT140):c.2545G>A (p.Val849Met) rs771662799 0.00001
NM_014714.4(IFT140):c.2578-2A>G rs2040685752 0.00001
NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter) rs144513458 0.00001
NM_014714.4(IFT140):c.2661G>A (p.Glu887=) rs1287846996 0.00001
NM_014714.4(IFT140):c.2683C>T (p.His895Tyr) rs934460322 0.00001
NM_014714.4(IFT140):c.2690G>A (p.Arg897His) rs745863942 0.00001
NM_014714.4(IFT140):c.2718C>G (p.Arg906=) rs780540683 0.00001
NM_014714.4(IFT140):c.2758G>T (p.Ala920Ser) rs566450108 0.00001
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter) rs1432688490 0.00001
NM_014714.4(IFT140):c.3218A>G (p.Tyr1073Cys) rs777230794 0.00001
NM_014714.4(IFT140):c.3234C>T (p.Gly1078=) rs200748918 0.00001
NM_014714.4(IFT140):c.3301G>A (p.Ala1101Thr) rs760652531 0.00001
NM_014714.4(IFT140):c.3403G>A (p.Glu1135Lys) rs774170824 0.00001
NM_014714.4(IFT140):c.3470A>T (p.Gln1157Leu) rs772423904 0.00001
NM_014714.4(IFT140):c.3563G>A (p.Arg1188Gln) rs780533679 0.00001
NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg) rs754978656 0.00001
NM_014714.4(IFT140):c.3596G>A (p.Cys1199Tyr) rs535064774 0.00001
NM_014714.4(IFT140):c.3601C>T (p.Arg1201Cys) rs368685855 0.00001
NM_014714.4(IFT140):c.3633G>C (p.Lys1211Asn) rs771772194 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.3767C>T (p.Ser1256Phe) rs1325819285 0.00001
NM_014714.4(IFT140):c.3788C>T (p.Pro1263Leu) rs775044452 0.00001
NM_014714.4(IFT140):c.3789G>A (p.Pro1263=) rs769211167 0.00001
NM_014714.4(IFT140):c.3864T>C (p.Ala1288=) rs1181821502 0.00001
NM_014714.4(IFT140):c.3874-1G>A rs749563050 0.00001
NM_014714.4(IFT140):c.3876G>A (p.Val1292=) rs986239975 0.00001
NM_014714.4(IFT140):c.3913G>A (p.Gly1305Arg) rs755596826 0.00001
NM_014714.4(IFT140):c.3958A>G (p.Lys1320Glu) rs776809726 0.00001
NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val) rs376151586 0.00001
NM_014714.4(IFT140):c.4040+1G>A rs748523056 0.00001
NM_014714.4(IFT140):c.4056C>T (p.Asp1352=) rs140265753 0.00001
NM_014714.4(IFT140):c.4073A>G (p.Lys1358Arg) rs763363588 0.00001
NM_014714.4(IFT140):c.4076A>G (p.Gln1359Arg) rs907401737 0.00001
NM_014714.4(IFT140):c.4196T>C (p.Leu1399Pro) rs559371453 0.00001
NM_014714.4(IFT140):c.4257C>T (p.Ala1419=) rs535810761 0.00001
NM_014714.4(IFT140):c.4267G>A (p.Val1423Met) rs756711276 0.00001
NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn) rs777181948 0.00001
NM_014714.4(IFT140):c.1525-2_1525-1del
NM_014714.4(IFT140):c.1536_1539del (p.Lys512fs)
NM_014714.4(IFT140):c.1541_1542delinsAA (p.Leu514Gln) rs886043802
NM_014714.4(IFT140):c.1584C>A (p.Asp528Glu)
NM_014714.4(IFT140):c.1597_1598insA (p.Phe533fs)
NM_014714.4(IFT140):c.1619T>A (p.Leu540Ter)
NM_014714.4(IFT140):c.1619dup (p.Leu540fs)
NM_014714.4(IFT140):c.1624C>T (p.His542Tyr)
NM_014714.4(IFT140):c.1625A>G (p.His542Arg)
NM_014714.4(IFT140):c.1645T>C (p.Ser549Pro)
NM_014714.4(IFT140):c.1649G>C (p.Arg550Pro) rs762399912
NM_014714.4(IFT140):c.1653-10del rs760597633
NM_014714.4(IFT140):c.1687G>T (p.Ala563Ser)
NM_014714.4(IFT140):c.1717G>A (p.Ala573Thr) rs528350505
NM_014714.4(IFT140):c.1724T>A (p.Leu575Gln)
NM_014714.4(IFT140):c.1726C>G (p.Arg576Gly)
NM_014714.4(IFT140):c.1737C>T (p.Ser579=) rs1230491407
NM_014714.4(IFT140):c.1770+15C>G rs374526643
NM_014714.4(IFT140):c.1770+1G>A
NM_014714.4(IFT140):c.1778A>G (p.Asn593Ser)
NM_014714.4(IFT140):c.1823_1824del (p.Thr608fs)
NM_014714.4(IFT140):c.1842_1843insGGC (p.Phe614_Lys615insGly)
NM_014714.4(IFT140):c.1849G>A (p.Gly617Arg)
NM_014714.4(IFT140):c.1858G>A (p.Asp620Asn)
NM_014714.4(IFT140):c.1862delinsAGA (p.Arg621fs) rs2033706353
NM_014714.4(IFT140):c.1865G>A (p.Arg622Lys)
NM_014714.4(IFT140):c.1874T>C (p.Leu625Pro)
NM_014714.4(IFT140):c.1891G>C (p.Glu631Gln) rs777613696
NM_014714.4(IFT140):c.1898_1901del (p.Asn633fs) rs1555487977
NM_014714.4(IFT140):c.1924G>A (p.Gly642Arg)
NM_014714.4(IFT140):c.1933A>G (p.Asn645Asp) rs540658203
NM_014714.4(IFT140):c.1944del (p.Pro648_Val649insTer)
NM_014714.4(IFT140):c.1945G>A (p.Val649Met) rs534052238
NM_014714.4(IFT140):c.1946T>G (p.Val649Gly)
NM_014714.4(IFT140):c.1963C>T (p.Gln655Ter)
NM_014714.4(IFT140):c.1968_1969delinsCT (p.Glu657Ter)
NM_014714.4(IFT140):c.1973C>T (p.Pro658Leu)
NM_014714.4(IFT140):c.2000A>G (p.Gln667Arg)
NM_014714.4(IFT140):c.2011C>T (p.Arg671Cys)
NM_014714.4(IFT140):c.2038C>T (p.Gln680Ter) rs2141540660
NM_014714.4(IFT140):c.2051G>A (p.Gly684Glu)
NM_014714.4(IFT140):c.2068-2A>G rs1489989834
NM_014714.4(IFT140):c.2090T>C (p.Phe697Ser) rs1343501211
NM_014714.4(IFT140):c.2129G>T (p.Ser710Ile)
NM_014714.4(IFT140):c.2137C>T (p.Arg713Trp)
NM_014714.4(IFT140):c.2140C>T (p.Pro714Ser)
NM_014714.4(IFT140):c.2142T>C (p.Pro714=)
NM_014714.4(IFT140):c.2143G>T (p.Ala715Ser)
NM_014714.4(IFT140):c.2158C>T (p.Leu720Phe)
NM_014714.4(IFT140):c.2200-1G>C
NM_014714.4(IFT140):c.2203G>A (p.Glu735Lys)
NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs) rs1415763185
NM_014714.4(IFT140):c.2243A>G (p.His748Arg) rs2033204478
NM_014714.4(IFT140):c.2259G>A (p.Met753Ile) rs2033203151
NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter) rs1555486629
NM_014714.4(IFT140):c.2305G>C (p.Asp769His)
NM_014714.4(IFT140):c.2317C>T (p.Arg773Trp)
NM_014714.4(IFT140):c.2348T>A (p.Val783Asp)
NM_014714.4(IFT140):c.2355A>G (p.Ile785Met) rs2033196611
NM_014714.4(IFT140):c.2399+6G>T
NM_014714.4(IFT140):c.2400-12G>A rs186193750
NM_014714.4(IFT140):c.2400-13_2409del
NM_014714.4(IFT140):c.2434G>A (p.Val812Met)
NM_014714.4(IFT140):c.2443C>T (p.Gln815Ter) rs2141185231
NM_014714.4(IFT140):c.2446C>T (p.Arg816Trp) rs549813139
NM_014714.4(IFT140):c.2458G>A (p.Ala820Thr) rs2141185138
NM_014714.4(IFT140):c.2464del (p.Val822fs)
NM_014714.4(IFT140):c.2469C>T (p.Cys823=)
NM_014714.4(IFT140):c.2475G>T (p.Gly825=)
NM_014714.4(IFT140):c.2483del (p.Gly828fs)
NM_014714.4(IFT140):c.2494G>T (p.Gly832Trp)
NM_014714.4(IFT140):c.2500C>T (p.Arg834Ter) rs777399400
NM_014714.4(IFT140):c.2501G>C (p.Arg834Pro) rs771116194
NM_014714.4(IFT140):c.2516C>A (p.Ala839Glu)
NM_014714.4(IFT140):c.2543_2563del (p.Arg848_Thr854del)
NM_014714.4(IFT140):c.2548dup (p.Ala850fs)
NM_014714.4(IFT140):c.2550C>G (p.Ala850=) rs2745180
NM_014714.4(IFT140):c.2554C>G (p.Leu852Val)
NM_014714.4(IFT140):c.2572A>T (p.Met858Leu)
NM_014714.4(IFT140):c.2577+25G>A rs1423102192
NM_014714.4(IFT140):c.2577+2T>C
NM_014714.4(IFT140):c.2605T>A (p.Cys869Ser)
NM_014714.4(IFT140):c.2607C>G (p.Cys869Trp) rs2040684314
NM_014714.4(IFT140):c.2612G>A (p.Arg871His) rs905240853
NM_014714.4(IFT140):c.2617G>C (p.Asp873His) rs560840162
NM_014714.4(IFT140):c.2627A>G (p.Asn876Ser) rs775517181
NM_014714.4(IFT140):c.2628C>A (p.Asn876Lys) rs2040683256
NM_014714.4(IFT140):c.2638C>T (p.Gln880Ter)
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly) rs554196965
NM_014714.4(IFT140):c.2654G>A (p.Trp885Ter)
NM_014714.4(IFT140):c.2655del (p.Trp885fs) rs762111572
NM_014714.4(IFT140):c.2669A>C (p.Gln890Pro)
NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer) rs2141179932
NM_014714.4(IFT140):c.2676C>T (p.Ala892=) rs377016838
NM_014714.4(IFT140):c.2682C>A (p.His894Gln) rs774192784
NM_014714.4(IFT140):c.2682delinsAA (p.His894fs)
NM_014714.4(IFT140):c.2716C>T (p.Arg906Cys) rs755504361
NM_014714.4(IFT140):c.2717G>T (p.Arg906Leu)
NM_014714.4(IFT140):c.2734G>A (p.Glu912Lys)
NM_014714.4(IFT140):c.2755C>G (p.Arg919Gly) rs548992623
NM_014714.4(IFT140):c.2767_2768+2del rs769075694
NM_014714.4(IFT140):c.3142_3144del rs754866110
NM_014714.4(IFT140):c.3157G>A (p.Asp1053Asn) rs148194893
NM_014714.4(IFT140):c.3176C>T (p.Ala1059Val) rs779603114
NM_014714.4(IFT140):c.3192del (p.Glu1065fs) rs1567327347
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln) rs201884886
NM_014714.4(IFT140):c.3219C>A (p.Tyr1073Ter)
NM_014714.4(IFT140):c.3222C>G (p.Tyr1074Ter)
NM_014714.4(IFT140):c.3236dup (p.Gln1080fs)
NM_014714.4(IFT140):c.3246C>G (p.Asp1082Glu)
NM_014714.4(IFT140):c.3250G>A (p.Ala1084Thr)
NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs) rs766084603
NM_014714.4(IFT140):c.3271-2A>C
NM_014714.4(IFT140):c.3299T>C (p.Leu1100Pro)
NM_014714.4(IFT140):c.3325_3327dup (p.Ala1109_Leu1110insAla)
NM_014714.4(IFT140):c.3338T>C (p.Ile1113Thr)
NM_014714.4(IFT140):c.3352G>T (p.Asp1118Tyr)
NM_014714.4(IFT140):c.3368C>T (p.Pro1123Leu) rs781672845
NM_014714.4(IFT140):c.3408_3409del (p.His1136fs) rs765669703
NM_014714.4(IFT140):c.3420G>A (p.Glu1140=)
NM_014714.4(IFT140):c.3425C>T (p.Ala1142Val) rs370255916
NM_014714.4(IFT140):c.3453G>C (p.Lys1151Asn)
NM_014714.4(IFT140):c.3454-1G>A
NM_014714.4(IFT140):c.3484C>T (p.Gln1162Ter)
NM_014714.4(IFT140):c.3522G>T (p.Met1174Ile)
NM_014714.4(IFT140):c.3525C>T (p.Thr1175=) rs752664070
NM_014714.4(IFT140):c.3561G>A (p.Ser1187=) rs769082969
NM_014714.4(IFT140):c.3565C>T (p.Arg1189Trp)
NM_014714.4(IFT140):c.3566G>T (p.Arg1189Leu) rs149837281
NM_014714.4(IFT140):c.3598A>G (p.Met1200Val) rs566568065
NM_014714.4(IFT140):c.3600G>A (p.Met1200Ile)
NM_014714.4(IFT140):c.3611G>A (p.Ser1204Asn)
NM_014714.4(IFT140):c.3635A>G (p.Tyr1212Cys)
NM_014714.4(IFT140):c.3646G>A (p.Gly1216Ser)
NM_014714.4(IFT140):c.3649A>C (p.Asn1217His)
NM_014714.4(IFT140):c.3674T>C (p.Leu1225Pro)
NM_014714.4(IFT140):c.3701T>C (p.Ile1234Thr)
NM_014714.4(IFT140):c.3712G>A (p.Ala1238Thr) rs376953801
NM_014714.4(IFT140):c.3712G>T (p.Ala1238Ser)
NM_014714.4(IFT140):c.3777del (p.Trp1259fs)
NM_014714.4(IFT140):c.3805A>G (p.Ile1269Val)
NM_014714.4(IFT140):c.3810C>G (p.Ile1270Met) rs557923123
NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu) rs779007169
NM_014714.4(IFT140):c.3829C>T (p.Arg1277Trp)
NM_014714.4(IFT140):c.3838G>A (p.Asp1280Asn)
NM_014714.4(IFT140):c.3841C>T (p.Leu1281Phe)
NM_014714.4(IFT140):c.3872A>G (p.Gln1291Arg)
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) rs587776909
NM_014714.4(IFT140):c.3932A>G (p.Tyr1311Cys)
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2]) rs746697405
NM_014714.4(IFT140):c.3943GCCAAG[4] (p.1315AK[4]) rs746697405
NM_014714.4(IFT140):c.3954_3960delinsC (p.Lys1318_Lys1320delinsAsn)
NM_014714.4(IFT140):c.3963_3978del (p.Ser1321fs)
NM_014714.4(IFT140):c.3981del (p.Arg1328fs) rs1431530916
NM_014714.4(IFT140):c.4009G>A (p.Ala1337Thr)
NM_014714.4(IFT140):c.4041-10C>T
NM_014714.4(IFT140):c.4041-2A>G
NM_014714.4(IFT140):c.4078T>A (p.Cys1360Ser)
NM_014714.4(IFT140):c.4078dup (p.Cys1360fs)
NM_014714.4(IFT140):c.4123A>G (p.Ile1375Val) rs1258339035
NM_014714.4(IFT140):c.4132G>A (p.Val1378Ile)
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.4183-11C>T rs776525322
NM_014714.4(IFT140):c.4208GGC[2] (p.Arg1405del) rs754312950
NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup) rs754312950
NM_014714.4(IFT140):c.4227C>G (p.Ala1409=) rs143920103
NM_014714.4(IFT140):c.4233G>T (p.Met1411Ile)
NM_014714.4(IFT140):c.4235C>T (p.Ser1412Phe)
NM_014714.4(IFT140):c.4235_4244dup (p.Ser1416fs)
NM_014714.4(IFT140):c.4273C>T (p.Arg1425Trp) rs138697817
NM_014714.4(IFT140):c.4278del (p.Leu1427fs)
NM_014714.4(IFT140):c.4286T>C (p.Leu1429Pro)
NM_014714.4(IFT140):c.4323dup (p.Asn1442fs) rs2141088947
NM_014714.4(IFT140):c.4339G>T (p.Ala1447Ser)
NM_014714.4(IFT140):c.4347_4367del (p.Leu1450_Glu1456del) rs760889117
NM_014714.4(IFT140):c.4351G>C (p.Asp1451His)
NM_014714.4(IFT140):c.4375G>T (p.Asp1459Tyr)
NM_014714.4:c.(3453+1_3454-1)_(4182+1_4183-1)dup

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