ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 366
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.2067G>A (p.Ala689=) rs143537808 0.00043
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.1646C>T (p.Ser549Phe) rs751137317 0.00008
NM_014714.4(IFT140):c.1649G>A (p.Arg550Gln) rs762399912 0.00008
NM_014714.4(IFT140):c.2067+4C>T rs111785408 0.00008
NM_014714.4(IFT140):c.2543G>A (p.Arg848His) rs746743309 0.00008
NM_014714.4(IFT140):c.3947A>T (p.Lys1316Met) rs1288732698 0.00008
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.2423C>T (p.Ala808Val) rs748463111 0.00006
NM_014714.4(IFT140):c.2530G>C (p.Glu844Gln) rs768971224 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.2491C>T (p.Arg831Cys) rs774690522 0.00005
NM_014714.4(IFT140):c.3382C>T (p.Arg1128Cys) rs368830697 0.00005
NM_014714.4(IFT140):c.1726C>T (p.Arg576Trp) rs757678246 0.00004
NM_014714.4(IFT140):c.1789T>G (p.Ser597Ala) rs771450990 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.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.3193G>A (p.Glu1065Lys) rs373564205 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.4036C>T (p.Arg1346Cys) rs556735183 0.00004
NM_014714.4(IFT140):c.4037G>A (p.Arg1346His) rs144050063 0.00004
NM_014714.4(IFT140):c.4048A>G (p.Thr1350Ala) rs756448762 0.00004
NM_014714.4(IFT140):c.4163G>A (p.Arg1388Gln) rs369058620 0.00004
NM_014714.4(IFT140):c.4377_4378insA (p.Asp1460fs) rs753109181 0.00004
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.2510G>A (p.Arg837His) rs374429002 0.00003
NM_014714.4(IFT140):c.2584G>A (p.Ala862Thr) rs751629348 0.00003
NM_014714.4(IFT140):c.2743G>A (p.Ala915Thr) rs529397200 0.00003
NM_014714.4(IFT140):c.3302C>T (p.Ala1101Val) rs773291603 0.00003
NM_014714.4(IFT140):c.3350T>C (p.Leu1117Pro) rs749518919 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.3841C>G (p.Leu1281Val) rs1205008767 0.00003
NM_014714.4(IFT140):c.4041-5G>A rs754813435 0.00003
NM_014714.4(IFT140):c.4136A>G (p.Tyr1379Cys) rs117433764 0.00003
NM_014714.4(IFT140):c.4162C>T (p.Arg1388Trp) rs760253028 0.00003
NM_014714.4(IFT140):c.4385C>T (p.Pro1462Leu) rs1198844614 0.00003
NM_014714.4(IFT140):c.1999C>G (p.Gln667Glu) rs753128503 0.00002
NM_014714.4(IFT140):c.2072A>T (p.Asp691Val) rs763569081 0.00002
NM_014714.4(IFT140):c.2312C>T (p.Ala771Val) rs764243187 0.00002
NM_014714.4(IFT140):c.2372C>G (p.Ala791Gly) rs758544371 0.00002
NM_014714.4(IFT140):c.2464G>A (p.Val822Met) rs1157116921 0.00002
NM_014714.4(IFT140):c.2488G>A (p.Ala830Thr) rs1438111084 0.00002
NM_014714.4(IFT140):c.2632T>A (p.Phe878Ile) rs1396499118 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.3347A>G (p.Asp1116Gly) rs768889794 0.00002
NM_014714.4(IFT140):c.3502G>A (p.Glu1168Lys) rs780721001 0.00002
NM_014714.4(IFT140):c.3584T>C (p.Ile1195Thr) rs753550166 0.00002
NM_014714.4(IFT140):c.3625A>G (p.Thr1209Ala) rs1464318641 0.00002
NM_014714.4(IFT140):c.3650A>G (p.Asn1217Ser) rs368380437 0.00002
NM_014714.4(IFT140):c.3671C>T (p.Ala1224Val) rs369161842 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.4181C>T (p.Thr1394Met) rs771765849 0.00002
NM_014714.4(IFT140):c.4207C>T (p.Arg1403Trp) rs772400580 0.00002
NM_014714.4(IFT140):c.4232T>G (p.Met1411Arg) rs752233693 0.00002
NM_014714.4(IFT140):c.1553C>T (p.Ser518Leu) rs761365882 0.00001
NM_014714.4(IFT140):c.1559C>T (p.Thr520Ile) rs1321089981 0.00001
NM_014714.4(IFT140):c.1585A>G (p.Ile529Val) rs145895414 0.00001
NM_014714.4(IFT140):c.1607T>C (p.Val536Ala) rs1206065799 0.00001
NM_014714.4(IFT140):c.1688C>T (p.Ala563Val) rs968524691 0.00001
NM_014714.4(IFT140):c.1708G>C (p.Gly570Arg) rs749278176 0.00001
NM_014714.4(IFT140):c.1741G>A (p.Gly581Arg) rs532971915 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.2009C>T (p.Pro670Leu) rs149845330 0.00001
NM_014714.4(IFT140):c.2012G>A (p.Arg671His) rs1372026395 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.2078T>C (p.Leu693Ser) rs370031319 0.00001
NM_014714.4(IFT140):c.2103A>G (p.Glu701=) rs1567373288 0.00001
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala) rs1057518064 0.00001
NM_014714.4(IFT140):c.2209G>A (p.Ala737Thr) rs1161696291 0.00001
NM_014714.4(IFT140):c.2242C>T (p.His748Tyr) rs760427350 0.00001
NM_014714.4(IFT140):c.2261T>C (p.Val754Ala) rs754474621 0.00001
NM_014714.4(IFT140):c.2279G>A (p.Arg760Gln) rs780086795 0.00001
NM_014714.4(IFT140):c.2303G>A (p.Cys768Tyr) rs145283562 0.00001
NM_014714.4(IFT140):c.2318G>A (p.Arg773Gln) rs140458893 0.00001
NM_014714.4(IFT140):c.2323G>A (p.Ala775Thr) rs771255082 0.00001
NM_014714.4(IFT140):c.2438A>C (p.Lys813Thr) rs1350594828 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.2485C>T (p.His829Tyr) rs921816941 0.00001
NM_014714.4(IFT140):c.2509C>T (p.Arg837Cys) rs754073086 0.00001
NM_014714.4(IFT140):c.2536G>A (p.Glu846Lys) rs896477215 0.00001
NM_014714.4(IFT140):c.2545G>A (p.Val849Met) rs771662799 0.00001
NM_014714.4(IFT140):c.2686G>A (p.Asp896Asn) rs775236964 0.00001
NM_014714.4(IFT140):c.2689C>T (p.Arg897Cys) rs769761601 0.00001
NM_014714.4(IFT140):c.2690G>A (p.Arg897His) rs745863942 0.00001
NM_014714.4(IFT140):c.2714A>G (p.His905Arg) rs1255418645 0.00001
NM_014714.4(IFT140):c.3218A>G (p.Tyr1073Cys) rs777230794 0.00001
NM_014714.4(IFT140):c.3223G>A (p.Glu1075Lys) rs936261766 0.00001
NM_014714.4(IFT140):c.3226G>A (p.Glu1076Lys) rs773620301 0.00001
NM_014714.4(IFT140):c.3251C>A (p.Ala1084Glu) rs757199524 0.00001
NM_014714.4(IFT140):c.3301G>A (p.Ala1101Thr) rs760652531 0.00001
NM_014714.4(IFT140):c.3348C>A (p.Asp1116Glu) rs1438729385 0.00001
NM_014714.4(IFT140):c.3359C>T (p.Thr1120Met) rs756215215 0.00001
NM_014714.4(IFT140):c.3418G>A (p.Glu1140Lys) rs564935788 0.00001
NM_014714.4(IFT140):c.3453+4C>T rs367744951 0.00001
NM_014714.4(IFT140):c.3470A>T (p.Gln1157Leu) rs772423904 0.00001
NM_014714.4(IFT140):c.3512C>T (p.Ala1171Val) rs1158940284 0.00001
NM_014714.4(IFT140):c.3563G>A (p.Arg1188Gln) rs780533679 0.00001
NM_014714.4(IFT140):c.3566G>A (p.Arg1189Gln) rs149837281 0.00001
NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg) rs754978656 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.3767C>T (p.Ser1256Phe) rs1325819285 0.00001
NM_014714.4(IFT140):c.3788C>T (p.Pro1263Leu) rs775044452 0.00001
NM_014714.4(IFT140):c.3913G>A (p.Gly1305Arg) rs755596826 0.00001
NM_014714.4(IFT140):c.3928G>A (p.Ala1310Thr) rs1055889482 0.00001
NM_014714.4(IFT140):c.3958A>G (p.Lys1320Glu) rs776809726 0.00001
NM_014714.4(IFT140):c.4040+4T>A rs1402787371 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.4104C>A (p.Asp1368Glu) rs746684542 0.00001
NM_014714.4(IFT140):c.4172A>G (p.Glu1391Gly) rs1386350816 0.00001
NM_014714.4(IFT140):c.4182+4A>C rs1439771269 0.00001
NM_014714.4(IFT140):c.4210C>T (p.Arg1404Trp) rs1465721813 0.00001
NM_014714.4(IFT140):c.4267G>A (p.Val1423Met) rs756711276 0.00001
NM_014714.4(IFT140):c.4300A>G (p.Thr1434Ala) rs761959670 0.00001
NC_000016.9:g.(?_1607916)_(1618355_?)dup
NC_000016.9:g.(?_1639586)_(1642609_?)del
NM_014714.4(IFT140):c.1525-5_1525-3del rs757146365
NM_014714.4(IFT140):c.1528A>G (p.Thr510Ala)
NM_014714.4(IFT140):c.1529C>T (p.Thr510Ile)
NM_014714.4(IFT140):c.1535A>G (p.Lys512Arg) rs2141634655
NM_014714.4(IFT140):c.1541T>G (p.Leu514Arg) rs150903791
NM_014714.4(IFT140):c.1542CCT[1] (p.Leu516del)
NM_014714.4(IFT140):c.1568A>T (p.Asn523Ile)
NM_014714.4(IFT140):c.1582G>C (p.Asp528His)
NM_014714.4(IFT140):c.1641T>G (p.Asp547Glu)
NM_014714.4(IFT140):c.1649G>C (p.Arg550Pro) rs762399912
NM_014714.4(IFT140):c.1652+4A>G
NM_014714.4(IFT140):c.1652+5A>T rs1332507276
NM_014714.4(IFT140):c.1663G>A (p.Ala555Thr) rs1318199702
NM_014714.4(IFT140):c.1669T>C (p.Cys557Arg)
NM_014714.4(IFT140):c.1677C>G (p.Cys559Trp) rs2033834541
NM_014714.4(IFT140):c.1679G>A (p.Arg560Lys)
NM_014714.4(IFT140):c.1682G>T (p.Ser561Ile)
NM_014714.4(IFT140):c.1703G>A (p.Gly568Glu) rs768821637
NM_014714.4(IFT140):c.1717G>T (p.Ala573Ser) rs528350505
NM_014714.4(IFT140):c.1720T>C (p.Ser574Pro) rs2033831042
NM_014714.4(IFT140):c.1727G>C (p.Arg576Pro) rs373111085
NM_014714.4(IFT140):c.1732AGC[4] (p.Ser580dup) rs2141595569
NM_014714.4(IFT140):c.1739G>A (p.Ser580Asn) rs1019259823
NM_014714.4(IFT140):c.1739G>C (p.Ser580Thr) rs1019259823
NM_014714.4(IFT140):c.1753A>C (p.Ser585Arg)
NM_014714.4(IFT140):c.1771G>A (p.Ala591Thr) rs751413638
NM_014714.4(IFT140):c.1782C>A (p.Ser594Arg) rs2033711810
NM_014714.4(IFT140):c.1792A>G (p.Lys598Glu) rs2141571032
NM_014714.4(IFT140):c.1816A>G (p.Met606Val) rs1319739285
NM_014714.4(IFT140):c.1854A>C (p.Gln618His) rs765410918
NM_014714.4(IFT140):c.1858G>A (p.Asp620Asn)
NM_014714.4(IFT140):c.1859A>C (p.Asp620Ala)
NM_014714.4(IFT140):c.1867G>C (p.Glu623Gln)
NM_014714.4(IFT140):c.1871C>T (p.Thr624Met) rs891304446
NM_014714.4(IFT140):c.1890A>G (p.Gln630=) rs2141569269
NM_014714.4(IFT140):c.1891G>A (p.Glu631Lys)
NM_014714.4(IFT140):c.1891G>C (p.Glu631Gln) rs777613696
NM_014714.4(IFT140):c.1937A>G (p.Tyr646Cys) rs762218450
NM_014714.4(IFT140):c.1952A>G (p.His651Arg)
NM_014714.4(IFT140):c.1957T>C (p.Trp653Arg)
NM_014714.4(IFT140):c.1968_1969inv (p.Glu657Lys)
NM_014714.4(IFT140):c.1973C>T (p.Pro658Leu)
NM_014714.4(IFT140):c.1976G>T (p.Arg659Leu)
NM_014714.4(IFT140):c.1978C>A (p.Leu660Met) rs2033579292
NM_014714.4(IFT140):c.1989C>G (p.Cys663Trp) rs781117803
NM_014714.4(IFT140):c.1996G>A (p.Val666Met)
NM_014714.4(IFT140):c.2000A>G (p.Gln667Arg)
NM_014714.4(IFT140):c.2021C>T (p.Pro674Leu) rs1240961381
NM_014714.4(IFT140):c.2023C>A (p.Gln675Lys) rs1202626787
NM_014714.4(IFT140):c.2030C>T (p.Ala677Val) rs1339244784
NM_014714.4(IFT140):c.2056G>A (p.Ala686Thr)
NM_014714.4(IFT140):c.2067+4C>G rs111785408
NM_014714.4(IFT140):c.2068-3C>G rs2033444839
NM_014714.4(IFT140):c.2089TTC[1] (p.Phe698del) rs768883274
NM_014714.4(IFT140):c.2090T>C (p.Phe697Ser) rs1343501211
NM_014714.4(IFT140):c.2101G>A (p.Glu701Lys)
NM_014714.4(IFT140):c.2105A>G (p.Glu702Gly) rs2033441889
NM_014714.4(IFT140):c.2111G>A (p.Gly704Asp)
NM_014714.4(IFT140):c.2123A>G (p.His708Arg) rs2033440134
NM_014714.4(IFT140):c.2125G>A (p.Glu709Lys)
NM_014714.4(IFT140):c.2129G>T (p.Ser710Ile)
NM_014714.4(IFT140):c.2137C>T (p.Arg713Trp)
NM_014714.4(IFT140):c.2158C>G (p.Leu720Val) rs756482228
NM_014714.4(IFT140):c.2174T>C (p.Val725Ala)
NM_014714.4(IFT140):c.2177C>A (p.Pro726His) rs1417500285
NM_014714.4(IFT140):c.2194A>G (p.Arg732Gly) rs2033435038
NM_014714.4(IFT140):c.2199G>A (p.Lys733=) rs752216380
NM_014714.4(IFT140):c.2200C>T (p.Pro734Ser) rs1298153861
NM_014714.4(IFT140):c.2204A>G (p.Glu735Gly)
NM_014714.4(IFT140):c.2221G>A (p.Asp741Asn)
NM_014714.4(IFT140):c.2259G>A (p.Met753Ile) rs2033203151
NM_014714.4(IFT140):c.2273C>T (p.Pro758Leu)
NM_014714.4(IFT140):c.2287G>A (p.Val763Met)
NM_014714.4(IFT140):c.2315C>T (p.Thr772Ile)
NM_014714.4(IFT140):c.2355A>G (p.Ile785Met) rs2033196611
NM_014714.4(IFT140):c.2359G>C (p.Asp787His)
NM_014714.4(IFT140):c.2366A>T (p.Asp789Val) rs1555486589
NM_014714.4(IFT140):c.2368G>A (p.Glu790Lys)
NM_014714.4(IFT140):c.2369A>T (p.Glu790Val)
NM_014714.4(IFT140):c.2372C>T (p.Ala791Val) rs758544371
NM_014714.4(IFT140):c.2375T>C (p.Phe792Ser) rs2033194698
NM_014714.4(IFT140):c.2392A>G (p.Ile798Val)
NM_014714.4(IFT140):c.2399+6G>A
NM_014714.4(IFT140):c.2400-3del rs1396232913
NM_014714.4(IFT140):c.2426G>A (p.Arg809His)
NM_014714.4(IFT140):c.2426G>C (p.Arg809Pro) rs780661065
NM_014714.4(IFT140):c.2432G>T (p.Cys811Phe) rs1358171484
NM_014714.4(IFT140):c.2434G>T (p.Val812Leu) rs569828117
NM_014714.4(IFT140):c.2479A>G (p.Met827Val) rs372141549
NM_014714.4(IFT140):c.2480T>C (p.Met827Thr)
NM_014714.4(IFT140):c.2494G>A (p.Gly832Arg)
NM_014714.4(IFT140):c.2500C>G (p.Arg834Gly)
NM_014714.4(IFT140):c.2504C>G (p.Ala835Gly) rs368232950
NM_014714.4(IFT140):c.2519A>G (p.Glu840Gly)
NM_014714.4(IFT140):c.2526G>C (p.Glu842Asp)
NM_014714.4(IFT140):c.2527C>A (p.Pro843Thr) rs1567331532
NM_014714.4(IFT140):c.2530G>A (p.Glu844Lys)
NM_014714.4(IFT140):c.2542C>A (p.Arg848Ser)
NM_014714.4(IFT140):c.2554C>G (p.Leu852Val)
NM_014714.4(IFT140):c.2564A>G (p.Gln855Arg)
NM_014714.4(IFT140):c.2572A>T (p.Met858Leu)
NM_014714.4(IFT140):c.2577+3G>A
NM_014714.4(IFT140):c.2577+4A>T rs2141184162
NM_014714.4(IFT140):c.2585C>T (p.Ala862Val)
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.2636A>G (p.Tyr879Cys)
NM_014714.4(IFT140):c.2648G>T (p.Gly883Val)
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly) rs554196965
NM_014714.4(IFT140):c.2671G>A (p.Val891Ile)
NM_014714.4(IFT140):c.2681A>G (p.His894Arg)
NM_014714.4(IFT140):c.2704A>C (p.Ser902Arg)
NM_014714.4(IFT140):c.2704A>G (p.Ser902Gly) rs1433656005
NM_014714.4(IFT140):c.2744C>T (p.Ala915Val)
NM_014714.4(IFT140):c.2764A>G (p.Ser922Gly)
NM_014714.4(IFT140):c.3142_3144del rs754866110
NM_014714.4(IFT140):c.3157G>A (p.Asp1053Asn) rs148194893
NM_014714.4(IFT140):c.3164T>C (p.Leu1055Pro)
NM_014714.4(IFT140):c.3188C>T (p.Ser1063Phe)
NM_014714.4(IFT140):c.3190C>G (p.Pro1064Ala)
NM_014714.4(IFT140):c.3201G>A (p.Met1067Ile)
NM_014714.4(IFT140):c.3203T>C (p.Ile1068Thr)
NM_014714.4(IFT140):c.3207G>T (p.Glu1069Asp)
NM_014714.4(IFT140):c.3212C>T (p.Ala1071Val) rs2040595876
NM_014714.4(IFT140):c.3223GAG[1] (p.Glu1076del)
NM_014714.4(IFT140):c.3243G>A (p.Met1081Ile)
NM_014714.4(IFT140):c.3245A>T (p.Asp1082Val) rs781204391
NM_014714.4(IFT140):c.3251C>T (p.Ala1084Val)
NM_014714.4(IFT140):c.3269A>G (p.Lys1090Arg) rs1007805827
NM_014714.4(IFT140):c.3270+19_3270+20inv
NM_014714.4(IFT140):c.3272C>G (p.Ala1091Gly)
NM_014714.4(IFT140):c.3322G>A (p.Val1108Met) rs2040587996
NM_014714.4(IFT140):c.3323T>C (p.Val1108Ala)
NM_014714.4(IFT140):c.3364G>A (p.Asp1122Asn)
NM_014714.4(IFT140):c.3368C>T (p.Pro1123Leu) rs781672845
NM_014714.4(IFT140):c.3373C>T (p.Leu1125Phe) rs1596302305
NM_014714.4(IFT140):c.3377T>C (p.Leu1126Pro)
NM_014714.4(IFT140):c.3394TTC[1] (p.Phe1133del) rs2040585460
NM_014714.4(IFT140):c.3404A>G (p.Glu1135Gly) rs2141164034
NM_014714.4(IFT140):c.3413_3414delinsTA (p.Gln1138Leu) rs1567326635
NM_014714.4(IFT140):c.3422G>A (p.Arg1141Lys)
NM_014714.4(IFT140):c.3425C>T (p.Ala1142Val) rs370255916
NM_014714.4(IFT140):c.3430_3431delinsAT (p.Glu1144Met)
NM_014714.4(IFT140):c.3453+5G>A
NM_014714.4(IFT140):c.3454T>C (p.Tyr1152His)
NM_014714.4(IFT140):c.3496A>G (p.Ile1166Val)
NM_014714.4(IFT140):c.3497T>C (p.Ile1166Thr) rs1294933019
NM_014714.4(IFT140):c.3499A>G (p.Thr1167Ala) rs1433941335
NM_014714.4(IFT140):c.3500C>T (p.Thr1167Ile)
NM_014714.4(IFT140):c.3507G>C (p.Glu1169Asp) rs1480279504
NM_014714.4(IFT140):c.3521T>C (p.Met1174Thr)
NM_014714.4(IFT140):c.3526G>T (p.Val1176Leu)
NM_014714.4(IFT140):c.3535G>T (p.Asp1179Tyr) rs1332512487
NM_014714.4(IFT140):c.3566G>T (p.Arg1189Leu) rs149837281
NM_014714.4(IFT140):c.3587C>T (p.Ala1196Val) rs760756337
NM_014714.4(IFT140):c.3598A>G (p.Met1200Val) rs566568065
NM_014714.4(IFT140):c.3602G>T (p.Arg1201Leu) rs147292597
NM_014714.4(IFT140):c.3617A>G (p.His1206Arg)
NM_014714.4(IFT140):c.3644C>G (p.Ala1215Gly) rs139871912
NM_014714.4(IFT140):c.3670G>A (p.Ala1224Thr) rs373377650
NM_014714.4(IFT140):c.3682T>C (p.Ser1228Pro) rs991385327
NM_014714.4(IFT140):c.3692C>T (p.Thr1231Met)
NM_014714.4(IFT140):c.3712G>A (p.Ala1238Thr) rs376953801
NM_014714.4(IFT140):c.3739T>C (p.Tyr1247His)
NM_014714.4(IFT140):c.3749C>T (p.Ala1250Val)
NM_014714.4(IFT140):c.3758A>G (p.Tyr1253Cys) rs2141144779
NM_014714.4(IFT140):c.3770T>C (p.Leu1257Pro) rs1470679979
NM_014714.4(IFT140):c.3810C>G (p.Ile1270Met) rs557923123
NM_014714.4(IFT140):c.3811G>A (p.Gly1271Ser)
NM_014714.4(IFT140):c.3833C>A (p.Ala1278Asp) rs147280047
NM_014714.4(IFT140):c.3833C>T (p.Ala1278Val)
NM_014714.4(IFT140):c.3862G>A (p.Ala1288Thr)
NM_014714.4(IFT140):c.3862G>C (p.Ala1288Pro)
NM_014714.4(IFT140):c.3869C>T (p.Ala1290Val)
NM_014714.4(IFT140):c.3874G>A (p.Val1292Met) rs2141143375
NM_014714.4(IFT140):c.3877_3879del (p.Glu1293del) rs1413533372
NM_014714.4(IFT140):c.3879G>T (p.Glu1293Asp) rs2040472652
NM_014714.4(IFT140):c.3898T>C (p.Tyr1300His)
NM_014714.4(IFT140):c.3935A>G (p.Lys1312Arg)
NM_014714.4(IFT140):c.3943GCCAAG[4] (p.1315AK[4]) rs746697405
NM_014714.4(IFT140):c.3953A>G (p.Lys1318Arg) rs2141142851
NM_014714.4(IFT140):c.3955G>A (p.Ala1319Thr) rs2141142844
NM_014714.4(IFT140):c.3956C>T (p.Ala1319Val) rs2040470204
NM_014714.4(IFT140):c.4022G>C (p.Arg1341Thr) rs1054102092
NM_014714.4(IFT140):c.4027A>G (p.Ile1343Val) rs771070134
NM_014714.4(IFT140):c.4040+3G>A
NM_014714.4(IFT140):c.4040+3G>T rs779462689
NM_014714.4(IFT140):c.4058C>G (p.Pro1353Arg) rs146666187
NM_014714.4(IFT140):c.4077G>T (p.Gln1359His) rs1387346251
NM_014714.4(IFT140):c.4093G>A (p.Glu1365Lys)
NM_014714.4(IFT140):c.4121G>A (p.Arg1374His) rs778892732
NM_014714.4(IFT140):c.4123A>G (p.Ile1375Val) rs1258339035
NM_014714.4(IFT140):c.4126G>A (p.Gly1376Arg)
NM_014714.4(IFT140):c.4132G>A (p.Val1378Ile)
NM_014714.4(IFT140):c.4136A>T (p.Tyr1379Phe)
NM_014714.4(IFT140):c.4145T>A (p.Leu1382Gln) rs1454067964
NM_014714.4(IFT140):c.4150G>T (p.Glu1384Ter)
NM_014714.4(IFT140):c.4166A>G (p.Lys1389Arg)
NM_014714.4(IFT140):c.4179G>C (p.Gln1393His) rs2040419700
NM_014714.4(IFT140):c.4180_4182+12del
NM_014714.4(IFT140):c.4187A>G (p.Tyr1396Cys) rs2040132765
NM_014714.4(IFT140):c.4190G>A (p.Arg1397Lys)
NM_014714.4(IFT140):c.4201G>C (p.Glu1401Gln) rs2040132121
NM_014714.4(IFT140):c.4204A>G (p.Met1402Val)
NM_014714.4(IFT140):c.4207del (p.Arg1403fs)
NM_014714.4(IFT140):c.4208G>T (p.Arg1403Leu)
NM_014714.4(IFT140):c.4208GGC[2] (p.Arg1405del) rs754312950
NM_014714.4(IFT140):c.4220C>T (p.Pro1407Leu) rs2141089845
NM_014714.4(IFT140):c.4228A>G (p.Asn1410Asp)
NM_014714.4(IFT140):c.4231A>C (p.Met1411Leu)
NM_014714.4(IFT140):c.4232T>C (p.Met1411Thr) rs752233693
NM_014714.4(IFT140):c.4242C>A (p.Tyr1414Ter)
NM_014714.4(IFT140):c.4258G>A (p.Val1420Met)
NM_014714.4(IFT140):c.4270C>T (p.His1424Tyr)
NM_014714.4(IFT140):c.4272C>A (p.His1424Gln) rs781658694
NM_014714.4(IFT140):c.4273C>T (p.Arg1425Trp) rs138697817
NM_014714.4(IFT140):c.4277G>A (p.Gly1426Glu) rs886051708
NM_014714.4(IFT140):c.4277G>T (p.Gly1426Val)
NM_014714.4(IFT140):c.4330A>G (p.Met1444Val) rs547804955
NM_014714.4(IFT140):c.4339G>A (p.Ala1447Thr)
NM_014714.4(IFT140):c.4341del (p.Arg1448fs) rs1209319873
NM_014714.4(IFT140):c.4347_4367del (p.Leu1450_Glu1456del) rs760889117
NM_014714.4(IFT140):c.4366G>A (p.Glu1456Lys) rs1386131080
NM_014714.4(IFT140):c.4386_4387del (p.Ter1463ArgextTer?) rs2040120370

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