ClinVar Miner

List of variants reported as uncertain significance for cranioectodermal dysplasia by Invitae

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 347
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HGVS dbSNP gnomAD frequency
NM_052989.3(IFT122):c.3638T>C (p.Met1213Thr) rs140623081 0.00050
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg) rs201153804 0.00045
NM_052989.3(IFT122):c.1576C>T (p.Arg526Cys) rs149578956 0.00039
NM_052989.3(IFT122):c.1310A>G (p.Asn437Ser) rs142655964 0.00035
NM_001006657.2(WDR35):c.1226C>T (p.Thr409Met) rs143430766 0.00027
NM_020779.4(WDR35):c.2458C>T (p.Arg820Cys) rs141190788 0.00023
NM_052989.3(IFT122):c.2420C>T (p.Pro807Leu) rs193183329 0.00020
NM_020779.4(WDR35):c.2065C>T (p.Arg689Cys) rs140196566 0.00019
NM_020779.4(WDR35):c.2456A>G (p.Glu819Gly) rs139352103 0.00019
NM_052989.3(IFT122):c.2760G>A (p.Met920Ile) rs374188891 0.00019
NM_052989.3(IFT122):c.478A>G (p.Asn160Asp) rs199886551 0.00019
NM_020779.4(WDR35):c.1330C>T (p.Arg444Cys) rs148510977 0.00018
NM_052989.3(IFT122):c.2599C>A (p.Pro867Thr) rs144831946 0.00017
NM_020779.4(WDR35):c.2254G>A (p.Glu752Lys) rs756006241 0.00016
NM_020779.4(WDR35):c.2999A>T (p.Glu1000Val) rs370951527 0.00015
NM_052989.3(IFT122):c.2458A>G (p.Ser820Gly) rs755556032 0.00015
NM_052989.3(IFT122):c.1430A>G (p.Lys477Arg) rs141539693 0.00014
NM_020779.4(WDR35):c.3349A>G (p.Ser1117Gly) rs369515554 0.00013
NM_020779.4(WDR35):c.2164C>T (p.Arg722Cys) rs374073530 0.00011
NM_020779.4(WDR35):c.2447G>A (p.Arg816Gln) rs539243373 0.00011
NM_052989.3(IFT122):c.3131C>T (p.Ala1044Val) rs147341636 0.00011
NM_052989.3(IFT122):c.2992A>G (p.Ile998Val) rs115715082 0.00009
NM_052989.3(IFT122):c.3698G>A (p.Arg1233His) rs201755623 0.00009
NM_020779.4(WDR35):c.66G>T (p.Trp22Cys) rs201860485 0.00008
NM_052989.3(IFT122):c.2600C>T (p.Pro867Leu) rs147499719 0.00008
NM_052989.3(IFT122):c.938G>A (p.Arg313Gln) rs376018883 0.00008
NM_020779.4(WDR35):c.2230G>A (p.Glu744Lys) rs1420842472 0.00007
NM_020779.4(WDR35):c.3460C>G (p.Gln1154Glu) rs774768083 0.00007
NM_052989.3(IFT122):c.2215C>T (p.Leu739Phe) rs763332787 0.00007
NM_020779.4(WDR35):c.1376G>A (p.Arg459Gln) rs146380332 0.00006
NM_020779.4(WDR35):c.2644G>A (p.Val882Ile) rs377535267 0.00006
NM_020779.4(WDR35):c.2930C>T (p.Ala977Val) rs754516323 0.00006
NM_020779.4(WDR35):c.3193T>A (p.Cys1065Ser) rs200258619 0.00006
NM_020779.4(WDR35):c.817T>G (p.Phe273Val) rs370377789 0.00006
NM_052989.3(IFT122):c.1150C>T (p.Arg384Trp) rs139079256 0.00006
NM_052989.3(IFT122):c.1760G>A (p.Arg587Gln) rs146270512 0.00006
NM_052989.3(IFT122):c.1940G>A (p.Arg647His) rs750301228 0.00006
NM_052989.3(IFT122):c.273-268A>T rs376246143 0.00006
NM_052989.3(IFT122):c.3127C>A (p.Arg1043Ser) rs555281580 0.00006
NM_052989.3(IFT122):c.3128G>A (p.Arg1043His) rs576743578 0.00006
NM_052989.3(IFT122):c.3232C>T (p.Arg1078Cys) rs771499492 0.00006
NM_052989.3(IFT122):c.475C>T (p.Arg159Trp) rs140547512 0.00006
NM_020779.4(WDR35):c.2515A>G (p.Ile839Val) rs763618858 0.00005
NM_020779.4(WDR35):c.2580G>A (p.Met860Ile) rs201443916 0.00005
NM_052989.3(IFT122):c.3217G>A (p.Val1073Ile) rs138028750 0.00005
NM_052989.3(IFT122):c.937C>T (p.Arg313Trp) rs755493101 0.00005
NM_001006657.2(WDR35):c.1204G>A (p.Glu402Lys) rs553534590 0.00004
NM_020779.4(WDR35):c.1529G>A (p.Arg510His) rs763031783 0.00004
NM_020779.4(WDR35):c.1637G>A (p.Arg546His) rs529313875 0.00004
NM_020779.4(WDR35):c.2278A>G (p.Ile760Val) rs370956261 0.00004
NM_020779.4(WDR35):c.2891C>G (p.Ala964Gly) rs1281384371 0.00004
NM_020779.4(WDR35):c.3307A>T (p.Thr1103Ser) rs774898515 0.00004
NM_020779.4(WDR35):c.551A>G (p.Asp184Gly) rs370873468 0.00004
NM_020779.4(WDR35):c.742G>A (p.Val248Ile) rs372968757 0.00004
NM_052989.3(IFT122):c.1294A>G (p.Lys432Glu) rs781181264 0.00004
NM_052989.3(IFT122):c.2383G>A (p.Asp795Asn) rs76007598 0.00004
NM_052989.3(IFT122):c.2681C>T (p.Ala894Val) rs376549217 0.00004
NM_052989.3(IFT122):c.273-346C>T rs778846137 0.00004
NM_052989.3(IFT122):c.3056A>G (p.Tyr1019Cys) rs553449191 0.00004
NM_052989.3(IFT122):c.3073C>G (p.Leu1025Val) rs778888913 0.00004
NM_052989.3(IFT122):c.3343G>T (p.Val1115Leu) rs557159295 0.00004
NM_052989.3(IFT122):c.349+5G>A rs376595844 0.00004
NM_052989.3(IFT122):c.524C>T (p.Ser175Phe) rs777645844 0.00004
NM_001006657.2(WDR35):c.1206G>T (p.Glu402Asp) rs762190195 0.00003
NM_020779.4(WDR35):c.142+5A>G rs762617889 0.00003
NM_020779.4(WDR35):c.1636C>T (p.Arg546Cys) rs549077153 0.00003
NM_020779.4(WDR35):c.197C>T (p.Thr66Ile) rs143397737 0.00003
NM_020779.4(WDR35):c.2128C>T (p.Arg710Cys) rs781365658 0.00003
NM_020779.4(WDR35):c.2446C>T (p.Arg816Trp) rs374027943 0.00003
NM_020779.4(WDR35):c.2864G>A (p.Arg955His) rs780666056 0.00003
NM_020779.4(WDR35):c.628A>G (p.Ile210Val) rs1413290520 0.00003
NM_052989.3(IFT122):c.1207A>C (p.Ile403Leu) rs149915993 0.00003
NM_052989.3(IFT122):c.1795G>A (p.Gly599Ser) rs758194778 0.00003
NM_052989.3(IFT122):c.3521G>A (p.Arg1174His) rs143602964 0.00003
NM_052989.3(IFT122):c.3554G>A (p.Arg1185Gln) rs754808589 0.00003
NM_052989.3(IFT122):c.3642C>G (p.Phe1214Leu) rs751262275 0.00003
NM_052989.3(IFT122):c.3697C>T (p.Arg1233Cys) rs778449955 0.00003
NM_020779.4(WDR35):c.1435A>G (p.Met479Val) rs797046099 0.00002
NM_020779.4(WDR35):c.1798A>G (p.Met600Val) rs751974091 0.00002
NM_020779.4(WDR35):c.1972C>T (p.Arg658Trp) rs754056303 0.00002
NM_020779.4(WDR35):c.2030A>G (p.Gln677Arg) rs771708013 0.00002
NM_020779.4(WDR35):c.2726A>G (p.Tyr909Cys) rs369793891 0.00002
NM_020779.4(WDR35):c.287T>C (p.Ile96Thr) rs1388421523 0.00002
NM_020779.4(WDR35):c.3254C>A (p.Thr1085Asn) rs190070503 0.00002
NM_020779.4(WDR35):c.670T>C (p.Cys224Arg) rs757871845 0.00002
NM_020779.4(WDR35):c.764A>G (p.Tyr255Cys) rs1228498799 0.00002
NM_052989.3(IFT122):c.1577G>A (p.Arg526His) rs754275024 0.00002
NM_052989.3(IFT122):c.2302G>A (p.Val768Met) rs561825107 0.00002
NM_052989.3(IFT122):c.3047G>A (p.Arg1016Gln) rs758998922 0.00002
NM_052989.3(IFT122):c.3053C>G (p.Ala1018Gly) rs767833675 0.00002
NM_052989.3(IFT122):c.3068G>A (p.Arg1023His) rs753932809 0.00002
NM_052989.3(IFT122):c.3233G>T (p.Arg1078Leu) rs1269892119 0.00002
NM_052989.3(IFT122):c.394A>G (p.Ser132Gly) rs1048830398 0.00002
NM_001006657.2(WDR35):c.1217T>C (p.Phe406Ser) rs971237623 0.00001
NM_020779.4(WDR35):c.1088C>T (p.Thr363Met) rs200341288 0.00001
NM_020779.4(WDR35):c.10T>C (p.Tyr4His) rs772365561 0.00001
NM_020779.4(WDR35):c.1104A>G (p.Lys368=) rs745634789 0.00001
NM_020779.4(WDR35):c.1220T>C (p.Ile407Thr) rs780584500 0.00001
NM_020779.4(WDR35):c.1276A>G (p.Thr426Ala) rs1371644144 0.00001
NM_020779.4(WDR35):c.1310C>T (p.Ala437Val) rs1671332812 0.00001
NM_020779.4(WDR35):c.1470+6T>C rs1162916086 0.00001
NM_020779.4(WDR35):c.1526G>T (p.Gly509Val) rs398123536 0.00001
NM_020779.4(WDR35):c.1871T>G (p.Ile624Ser) rs139252416 0.00001
NM_020779.4(WDR35):c.1930C>G (p.Pro644Ala) rs758919526 0.00001
NM_020779.4(WDR35):c.1991G>A (p.Arg664Gln) rs750367225 0.00001
NM_020779.4(WDR35):c.2524C>T (p.Pro842Ser) rs777217654 0.00001
NM_020779.4(WDR35):c.2627C>G (p.Ala876Gly) rs199849430 0.00001
NM_020779.4(WDR35):c.2672T>C (p.Val891Ala) rs370706293 0.00001
NM_020779.4(WDR35):c.2779C>T (p.Arg927Trp) rs149815363 0.00001
NM_020779.4(WDR35):c.2780G>A (p.Arg927Gln) rs754997630 0.00001
NM_020779.4(WDR35):c.2900T>C (p.Ile967Thr) rs776936691 0.00001
NM_020779.4(WDR35):c.308G>T (p.Gly103Val) rs886055406 0.00001
NM_020779.4(WDR35):c.3122-3T>C rs751769266 0.00001
NM_020779.4(WDR35):c.3190G>A (p.Ala1064Thr) rs759338583 0.00001
NM_020779.4(WDR35):c.3412G>A (p.Glu1138Lys) rs978909925 0.00001
NM_020779.4(WDR35):c.485T>C (p.Val162Ala) rs754439440 0.00001
NM_020779.4(WDR35):c.626G>A (p.Gly209Glu) rs1410550467 0.00001
NM_020779.4(WDR35):c.722A>G (p.His241Arg) rs138366348 0.00001
NM_052989.3(IFT122):c.1009G>C (p.Val337Leu) rs769712676 0.00001
NM_052989.3(IFT122):c.1024G>A (p.Asp342Asn) rs768644199 0.00001
NM_052989.3(IFT122):c.1067A>C (p.His356Pro) rs1064796598 0.00001
NM_052989.3(IFT122):c.1190A>G (p.Tyr397Cys) rs965712410 0.00001
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr) rs1335391766 0.00001
NM_052989.3(IFT122):c.1487A>G (p.Gln496Arg) rs1203426032 0.00001
NM_052989.3(IFT122):c.1759C>T (p.Arg587Trp) rs774723842 0.00001
NM_052989.3(IFT122):c.1851+5C>T rs375595062 0.00001
NM_052989.3(IFT122):c.2018G>A (p.Arg673Gln) rs140911243 0.00001
NM_052989.3(IFT122):c.227G>A (p.Ser76Asn) rs1012943423 0.00001
NM_052989.3(IFT122):c.2299G>A (p.Ala767Thr) rs199856807 0.00001
NM_052989.3(IFT122):c.2437A>G (p.Thr813Ala) rs565504126 0.00001
NM_052989.3(IFT122):c.2482T>C (p.Tyr828His) rs1298243007 0.00001
NM_052989.3(IFT122):c.2536C>T (p.Arg846Cys) rs750010740 0.00001
NM_052989.3(IFT122):c.2878C>T (p.Arg960Cys) rs765190529 0.00001
NM_052989.3(IFT122):c.2887-3C>T rs773452716 0.00001
NM_052989.3(IFT122):c.3191A>G (p.Asn1064Ser) rs767491295 0.00001
NM_052989.3(IFT122):c.3263A>G (p.Tyr1088Cys) rs774343448 0.00001
NM_052989.3(IFT122):c.349+4C>T rs753626217 0.00001
NM_052989.3(IFT122):c.410G>C (p.Cys137Ser) rs1278478989 0.00001
NM_052989.3(IFT122):c.748C>T (p.Arg250Cys) rs373212863 0.00001
NM_052989.3(IFT122):c.832G>A (p.Ala278Thr) rs773531126 0.00001
NM_052989.3(IFT122):c.877G>A (p.Glu293Lys) rs775510906 0.00001
NC_000003.11:g.(?_129150344)_(129159234_?)dup
NC_000003.11:g.(?_129150344)_(129252561_?)dup
NM_001006657.2(WDR35):c.1227G>A (p.Thr409=)
NM_020779.4(WDR35):c.100G>A (p.Glu34Lys) rs1572375239
NM_020779.4(WDR35):c.1040C>A (p.Ala347Glu) rs1228739567
NM_020779.4(WDR35):c.1058G>A (p.Arg353His)
NM_020779.4(WDR35):c.1082G>T (p.Trp361Leu) rs2103444974
NM_020779.4(WDR35):c.1228C>T (p.Pro410Ser)
NM_020779.4(WDR35):c.1270G>A (p.Ala424Thr)
NM_020779.4(WDR35):c.1301C>T (p.Ser434Leu) rs368497711
NM_020779.4(WDR35):c.1366C>G (p.Gln456Glu)
NM_020779.4(WDR35):c.1392G>T (p.Gly464=) rs1476590827
NM_020779.4(WDR35):c.1400+6del
NM_020779.4(WDR35):c.141A>G (p.Thr47=)
NM_020779.4(WDR35):c.1528C>T (p.Arg510Cys) rs1462353387
NM_020779.4(WDR35):c.1540A>G (p.Thr514Ala) rs2103417008
NM_020779.4(WDR35):c.1570G>A (p.Gly524Ser) rs2103416923
NM_020779.4(WDR35):c.1654A>C (p.Ile552Leu)
NM_020779.4(WDR35):c.1846-7T>A rs1479233566
NM_020779.4(WDR35):c.1866A>G (p.Gly622=) rs2103410659
NM_020779.4(WDR35):c.1901C>A (p.Ser634Tyr)
NM_020779.4(WDR35):c.1937A>G (p.His646Arg)
NM_020779.4(WDR35):c.1954C>G (p.Leu652Val)
NM_020779.4(WDR35):c.1994C>T (p.Ala665Val)
NM_020779.4(WDR35):c.2029C>G (p.Gln677Glu) rs775076264
NM_020779.4(WDR35):c.2116C>A (p.Gln706Lys) rs2103405475
NM_020779.4(WDR35):c.2129G>A (p.Arg710His) rs370797645
NM_020779.4(WDR35):c.2129G>T (p.Arg710Leu) rs370797645
NM_020779.4(WDR35):c.2135A>G (p.Lys712Arg)
NM_020779.4(WDR35):c.2149A>C (p.Ile717Leu) rs144493712
NM_020779.4(WDR35):c.2191A>G (p.Met731Val)
NM_020779.4(WDR35):c.2193G>C (p.Met731Ile)
NM_020779.4(WDR35):c.2213G>T (p.Gly738Val)
NM_020779.4(WDR35):c.2264G>C (p.Arg755Thr)
NM_020779.4(WDR35):c.2272C>G (p.Leu758Val) rs1670697417
NM_020779.4(WDR35):c.2288G>A (p.Arg763Gln) rs1670696748
NM_020779.4(WDR35):c.2356A>C (p.Ser786Arg) rs748153278
NM_020779.4(WDR35):c.2358T>A (p.Ser786Arg)
NM_020779.4(WDR35):c.2408A>G (p.Gln803Arg) rs2103403345
NM_020779.4(WDR35):c.2488G>A (p.Asp830Asn)
NM_020779.4(WDR35):c.2551A>G (p.Ile851Val)
NM_020779.4(WDR35):c.2559A>T (p.Gln853His)
NM_020779.4(WDR35):c.2575G>C (p.Gly859Arg) rs2103399882
NM_020779.4(WDR35):c.259A>T (p.Thr87Ser) rs2103463081
NM_020779.4(WDR35):c.2681C>T (p.Ala894Val) rs1670554390
NM_020779.4(WDR35):c.2746A>G (p.Lys916Glu) rs2103398404
NM_020779.4(WDR35):c.2798T>C (p.Phe933Ser) rs2103398314
NM_020779.4(WDR35):c.2800G>A (p.Asp934Asn) rs376786810
NM_020779.4(WDR35):c.2823+6_2823+298delinsAAA
NM_020779.4(WDR35):c.2823G>A (p.Lys941=) rs2103398260
NM_020779.4(WDR35):c.2856A>G (p.Lys952=) rs755843830
NM_020779.4(WDR35):c.2960C>T (p.Ser987Leu) rs750968053
NM_020779.4(WDR35):c.2964+17_2964+18delinsGG
NM_020779.4(WDR35):c.2968A>G (p.Thr990Ala) rs1184414721
NM_020779.4(WDR35):c.297G>A (p.Met99Ile) rs779065567
NM_020779.4(WDR35):c.2980G>T (p.Ala994Ser)
NM_020779.4(WDR35):c.2993AAG[2] (p.Glu1000del) rs746953019
NM_020779.4(WDR35):c.3026C>T (p.Thr1009Ile) rs201153804
NM_020779.4(WDR35):c.3034G>C (p.Ala1012Pro)
NM_020779.4(WDR35):c.3117G>T (p.Lys1039Asn)
NM_020779.4(WDR35):c.3162G>A (p.Val1054=) rs2103378366
NM_020779.4(WDR35):c.3281A>T (p.Tyr1094Phe)
NM_020779.4(WDR35):c.3322A>G (p.Lys1108Glu)
NM_020779.4(WDR35):c.3340G>A (p.Glu1114Lys) rs2103378015
NM_020779.4(WDR35):c.3362+6C>T
NM_020779.4(WDR35):c.3385T>C (p.Cys1129Arg) rs1558317812
NM_020779.4(WDR35):c.3398G>A (p.Gly1133Glu) rs1558317742
NM_020779.4(WDR35):c.3427A>T (p.Met1143Leu)
NM_020779.4(WDR35):c.3439T>C (p.Cys1147Arg)
NM_020779.4(WDR35):c.3448G>A (p.Gly1150Ser)
NM_020779.4(WDR35):c.3454C>T (p.Leu1152Phe)
NM_020779.4(WDR35):c.3455T>G (p.Leu1152Arg)
NM_020779.4(WDR35):c.367T>C (p.Trp123Arg)
NM_020779.4(WDR35):c.376G>A (p.Asp126Asn)
NM_020779.4(WDR35):c.436+4A>G rs1672290200
NM_020779.4(WDR35):c.442C>T (p.Arg148Cys)
NM_020779.4(WDR35):c.496G>A (p.Ala166Thr)
NM_020779.4(WDR35):c.497C>T (p.Ala166Val) rs374556044
NM_020779.4(WDR35):c.613A>G (p.Ile205Val)
NM_020779.4(WDR35):c.629T>C (p.Ile210Thr)
NM_020779.4(WDR35):c.658G>T (p.Val220Leu)
NM_020779.4(WDR35):c.664C>G (p.Pro222Ala) rs1553322982
NM_020779.4(WDR35):c.717G>A (p.Met239Ile)
NM_020779.4(WDR35):c.837G>C (p.Gln279His) rs764069624
NM_020779.4(WDR35):c.872C>T (p.Pro291Leu)
NM_020779.4(WDR35):c.920C>T (p.Ser307Phe)
NM_052989.3(IFT122):c.1008+3A>C
NM_052989.3(IFT122):c.108+4G>A rs1559838129
NM_052989.3(IFT122):c.1088A>G (p.Tyr363Cys)
NM_052989.3(IFT122):c.109-7T>C
NM_052989.3(IFT122):c.1168C>T (p.Leu390Phe) rs2108292713
NM_052989.3(IFT122):c.1199G>A (p.Arg400Gln) rs1405512091
NM_052989.3(IFT122):c.1220A>G (p.Glu407Gly)
NM_052989.3(IFT122):c.127G>A (p.Gly43Ser)
NM_052989.3(IFT122):c.1331A>G (p.Asn444Ser)
NM_052989.3(IFT122):c.1353G>T (p.Glu451Asp)
NM_052989.3(IFT122):c.1367G>T (p.Cys456Phe) rs1335391766
NM_052989.3(IFT122):c.1372T>G (p.Ser458Ala)
NM_052989.3(IFT122):c.1378A>T (p.Ser460Cys) rs1577642330
NM_052989.3(IFT122):c.1394G>A (p.Arg465Gln)
NM_052989.3(IFT122):c.1411T>G (p.Ser471Ala)
NM_052989.3(IFT122):c.1488G>A (p.Gln496=) rs2078432243
NM_052989.3(IFT122):c.1511A>G (p.Asn504Ser)
NM_052989.3(IFT122):c.1552C>T (p.Arg518Cys)
NM_052989.3(IFT122):c.1591G>A (p.Val531Met)
NM_052989.3(IFT122):c.1600G>A (p.Glu534Lys)
NM_052989.3(IFT122):c.1634C>G (p.Thr545Ser)
NM_052989.3(IFT122):c.1726C>T (p.Leu576Phe)
NM_052989.3(IFT122):c.1787G>T (p.Gly596Val)
NM_052989.3(IFT122):c.1793A>G (p.Asn598Ser)
NM_052989.3(IFT122):c.1828A>G (p.Ile610Val)
NM_052989.3(IFT122):c.1851+3A>G
NM_052989.3(IFT122):c.185C>T (p.Ala62Val)
NM_052989.3(IFT122):c.1868A>G (p.Gln623Arg)
NM_052989.3(IFT122):c.1890C>G (p.Phe630Leu)
NM_052989.3(IFT122):c.1892A>G (p.Lys631Arg)
NM_052989.3(IFT122):c.189G>A (p.Lys63=)
NM_052989.3(IFT122):c.1903C>G (p.Gln635Glu)
NM_052989.3(IFT122):c.1992G>A (p.Lys664=)
NM_052989.3(IFT122):c.199C>T (p.Arg67Cys)
NM_052989.3(IFT122):c.2063G>A (p.Gly688Glu)
NM_052989.3(IFT122):c.2087T>G (p.Leu696Arg)
NM_052989.3(IFT122):c.2165C>T (p.Ala722Val) rs143662777
NM_052989.3(IFT122):c.2233A>G (p.Lys745Glu)
NM_052989.3(IFT122):c.2303T>C (p.Val768Ala)
NM_052989.3(IFT122):c.2306A>G (p.Glu769Gly)
NM_052989.3(IFT122):c.2309T>G (p.Met770Arg)
NM_052989.3(IFT122):c.231TAT[1] (p.Ile79del)
NM_052989.3(IFT122):c.2332G>T (p.Val778Phe) rs139943115
NM_052989.3(IFT122):c.2384A>C (p.Asp795Ala)
NM_052989.3(IFT122):c.2392C>T (p.Arg798Cys)
NM_052989.3(IFT122):c.2465G>T (p.Gly822Val)
NM_052989.3(IFT122):c.2501T>C (p.Leu834Pro)
NM_052989.3(IFT122):c.2512G>C (p.Val838Leu)
NM_052989.3(IFT122):c.2537G>A (p.Arg846His) rs370415289
NM_052989.3(IFT122):c.2588A>G (p.Asp863Gly)
NM_052989.3(IFT122):c.2630G>A (p.Arg877His) rs561698295
NM_052989.3(IFT122):c.2645A>G (p.Gln882Arg)
NM_052989.3(IFT122):c.2672A>G (p.Gln891Arg) rs2082199852
NM_052989.3(IFT122):c.2683G>A (p.Val895Ile)
NM_052989.3(IFT122):c.273-283A>G
NM_052989.3(IFT122):c.273-313G>C
NM_052989.3(IFT122):c.273-334T>G
NM_052989.3(IFT122):c.2777T>C (p.Leu926Pro)
NM_052989.3(IFT122):c.2783T>A (p.Ile928Lys) rs747428443
NM_052989.3(IFT122):c.2792-12T>A
NM_052989.3(IFT122):c.2812A>G (p.Met938Val)
NM_052989.3(IFT122):c.2835C>G (p.Phe945Leu)
NM_052989.3(IFT122):c.2876A>G (p.His959Arg)
NM_052989.3(IFT122):c.2886G>A (p.Thr962=)
NM_052989.3(IFT122):c.2888A>G (p.Glu963Gly)
NM_052989.3(IFT122):c.2894C>T (p.Pro965Leu)
NM_052989.3(IFT122):c.2901T>G (p.Ser967Arg)
NM_052989.3(IFT122):c.2903T>G (p.Val968Gly)
NM_052989.3(IFT122):c.2909G>A (p.Arg970His)
NM_052989.3(IFT122):c.2972C>T (p.Ser991Leu)
NM_052989.3(IFT122):c.2999T>G (p.Phe1000Cys)
NM_052989.3(IFT122):c.299C>T (p.Ser100Phe)
NM_052989.3(IFT122):c.304A>C (p.Asn102His)
NM_052989.3(IFT122):c.3067C>T (p.Arg1023Cys)
NM_052989.3(IFT122):c.3088A>G (p.Arg1030Gly)
NM_052989.3(IFT122):c.3115A>G (p.Thr1039Ala)
NM_052989.3(IFT122):c.3124A>G (p.Ile1042Val)
NM_052989.3(IFT122):c.3127C>T (p.Arg1043Cys) rs555281580
NM_052989.3(IFT122):c.3175C>T (p.Arg1059Cys)
NM_052989.3(IFT122):c.3265+5G>A
NM_052989.3(IFT122):c.3268G>T (p.Val1090Leu)
NM_052989.3(IFT122):c.3308C>G (p.Thr1103Ser)
NM_052989.3(IFT122):c.3316G>A (p.Glu1106Lys)
NM_052989.3(IFT122):c.3359G>A (p.Arg1120Gln)
NM_052989.3(IFT122):c.3373C>G (p.Leu1125Val)
NM_052989.3(IFT122):c.3400A>G (p.Ile1134Val) rs754333037
NM_052989.3(IFT122):c.3404T>C (p.Leu1135Pro) rs1251905610
NM_052989.3(IFT122):c.3431_3432delinsCT (p.Ile1144Thr)
NM_052989.3(IFT122):c.348T>C (p.Phe116=)
NM_052989.3(IFT122):c.3490G>A (p.Val1164Met)
NM_052989.3(IFT122):c.3506G>C (p.Ser1169Thr)
NM_052989.3(IFT122):c.3509G>A (p.Arg1170Gln)
NM_052989.3(IFT122):c.3536G>A (p.Arg1179Gln) rs766429633
NM_052989.3(IFT122):c.3586C>T (p.Arg1196Cys) rs201590142
NM_052989.3(IFT122):c.3586del (p.Arg1196fs) rs1560036538
NM_052989.3(IFT122):c.3616A>G (p.Met1206Val)
NM_052989.3(IFT122):c.410G>A (p.Cys137Tyr) rs1278478989
NM_052989.3(IFT122):c.416+19del rs2108102299
NM_052989.3(IFT122):c.42T>C (p.Cys14=)
NM_052989.3(IFT122):c.458A>G (p.Asn153Ser)
NM_052989.3(IFT122):c.476G>A (p.Arg159Gln)
NM_052989.3(IFT122):c.521G>C (p.Gly174Ala)
NM_052989.3(IFT122):c.535A>G (p.Ile179Val)
NM_052989.3(IFT122):c.536T>G (p.Ile179Arg) rs769527595
NM_052989.3(IFT122):c.556C>T (p.Pro186Ser) rs2108118912
NM_052989.3(IFT122):c.55G>T (p.Ala19Ser)
NM_052989.3(IFT122):c.618T>G (p.Ile206Met) rs1320096747
NM_052989.3(IFT122):c.640A>G (p.Ile214Val)
NM_052989.3(IFT122):c.686A>C (p.Glu229Ala) rs1433055646
NM_052989.3(IFT122):c.702_713dup (p.Pro235_Glu238dup) rs2076877349
NM_052989.3(IFT122):c.718G>A (p.Asp240Asn)
NM_052989.3(IFT122):c.757A>G (p.Ile253Val)
NM_052989.3(IFT122):c.760C>A (p.Leu254Met)
NM_052989.3(IFT122):c.788T>C (p.Val263Ala)
NM_052989.3(IFT122):c.806G>A (p.Ser269Asn) rs2108198145
NM_052989.3(IFT122):c.807T>G (p.Ser269Arg)
NM_052989.3(IFT122):c.817A>G (p.Ile273Val)
NM_052989.3(IFT122):c.852C>G (p.Cys284Trp) rs1268071941
NM_052989.3(IFT122):c.928G>A (p.Asp310Asn)
NM_052989.3(IFT122):c.977C>T (p.Thr326Met) rs1389723772

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