ClinVar Miner

List of variants studied for Cranioectodermal dysplasia 1 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 546
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HGVS dbSNP gnomAD frequency
NM_052989.3(IFT122):c.740+15G>A rs56379561 0.13063
NM_052989.3(IFT122):c.1654-12C>T rs112066509 0.12634
NM_052989.3(IFT122):c.1147+19C>T rs2301570 0.10129
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln) rs61740161 0.07498
NM_052989.3(IFT122):c.109-15T>C rs114298924 0.02307
NM_052989.3(IFT122):c.3265+7C>T rs9836202 0.01370
NM_052989.3(IFT122):c.2154C>T (p.His718=) rs116819033 0.01164
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala) rs144397126 0.01035
NM_052989.3(IFT122):c.1854C>T (p.Ser618=) rs146874343 0.00981
NM_052989.3(IFT122):c.2682G>A (p.Ala894=) rs61741773 0.00905
NM_052989.3(IFT122):c.2415C>T (p.Arg805=) rs61744218 0.00860
NM_052989.3(IFT122):c.3303G>T (p.Gly1101=) rs111668739 0.00548
NM_052989.3(IFT122):c.1239G>A (p.Glu413=) rs111717774 0.00480
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp) rs61744639 0.00451
NM_052989.3(IFT122):c.2349C>A (p.Ile783=) rs114357746 0.00442
NM_052989.3(IFT122):c.1993-8C>T rs531091599 0.00439
NM_052989.3(IFT122):c.1113C>T (p.Asp371=) rs139319087 0.00429
NM_052989.3(IFT122):c.1908T>C (p.Ile636=) rs139722192 0.00334
NM_052989.3(IFT122):c.321A>G (p.Gln107=) rs138793724 0.00299
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=) rs149884307 0.00277
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr) rs146026277 0.00212
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) rs76881473 0.00206
NM_052989.3(IFT122):c.273-331C>A rs116196975 0.00187
NM_052989.3(IFT122):c.617T>C (p.Ile206Thr) rs59912693 0.00184
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_052989.3(IFT122):c.3462G>A (p.Leu1154=) rs150692598 0.00125
NM_052989.3(IFT122):c.3244A>G (p.Ile1082Val) rs143490747 0.00120
NM_052989.3(IFT122):c.2433C>T (p.Cys811=) rs141626835 0.00103
NM_052989.3(IFT122):c.825G>T (p.Lys275Asn) rs117517364 0.00095
NM_052989.3(IFT122):c.2749T>G (p.Tyr917Asp) rs146818399 0.00088
NM_052989.3(IFT122):c.41+15G>T rs36222038 0.00084
NM_052989.3(IFT122):c.214T>G (p.Ser72Ala) rs144140226 0.00077
NM_052989.3(IFT122):c.1026C>T (p.Asp342=) rs79187669 0.00075
NM_052989.3(IFT122):c.3392-20C>T rs200747264 0.00058
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile) rs200606803 0.00057
NM_052989.3(IFT122):c.3638T>C (p.Met1213Thr) rs140623081 0.00050
NM_052989.3(IFT122):c.986C>T (p.Ala329Val) rs200915373 0.00049
NM_052989.3(IFT122):c.2908C>T (p.Arg970Cys) rs145470016 0.00044
NM_052989.3(IFT122):c.3266-19C>T rs201753855 0.00040
NM_052989.3(IFT122):c.1576C>T (p.Arg526Cys) rs149578956 0.00039
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp) rs61744448 0.00038
NM_052989.3(IFT122):c.416+18G>A rs147288978 0.00037
NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn) rs148626512 0.00036
NM_052989.3(IFT122):c.2625C>T (p.Asn875=) rs76572254 0.00036
NM_052989.3(IFT122):c.1310A>G (p.Asn437Ser) rs142655964 0.00035
NM_052989.3(IFT122):c.1553G>A (p.Arg518His) rs138223055 0.00034
NM_052989.3(IFT122):c.2643C>T (p.Ala881=) rs150055466 0.00032
NM_052989.3(IFT122):c.417-16T>C rs192128912 0.00029
NM_052989.3(IFT122):c.3533G>A (p.Arg1178His) rs149029829 0.00024
NM_052989.3(IFT122):c.1380C>T (p.Ser460=) rs142641511 0.00021
NM_052989.3(IFT122):c.1525G>A (p.Val509Ile) rs368750069 0.00021
NM_052989.3(IFT122):c.1533G>A (p.Leu511=) rs183614690 0.00021
NM_052989.3(IFT122):c.531G>A (p.Ser177=) rs150496357 0.00021
NM_052989.3(IFT122):c.2420C>T (p.Pro807Leu) rs193183329 0.00020
NM_052989.3(IFT122):c.2424G>C (p.Leu808=) rs148188237 0.00020
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_052989.3(IFT122):c.2599C>A (p.Pro867Thr) rs144831946 0.00017
NM_052989.3(IFT122):c.1009-14C>T rs202155515 0.00016
NM_052989.3(IFT122):c.1821C>A (p.Val607=) rs141632773 0.00015
NM_052989.3(IFT122):c.2458A>G (p.Ser820Gly) rs755556032 0.00015
NM_052989.3(IFT122):c.3027C>T (p.Leu1009=) rs373152133 0.00015
NM_052989.3(IFT122):c.1139A>G (p.Glu380Gly) rs755060067 0.00014
NM_052989.3(IFT122):c.1430A>G (p.Lys477Arg) rs141539693 0.00014
NM_052989.3(IFT122):c.2577G>A (p.Glu859=) rs201077232 0.00014
NM_052989.3(IFT122):c.2715C>T (p.Ala905=) rs143748879 0.00014
NM_052989.3(IFT122):c.1383A>G (p.Gly461=) rs147887396 0.00013
NM_052989.3(IFT122):c.2987+15A>G rs373111458 0.00011
NM_052989.3(IFT122):c.3131C>T (p.Ala1044Val) rs147341636 0.00011
NM_052989.3(IFT122):c.416+12T>C rs141969308 0.00011
NM_052989.3(IFT122):c.229G>A (p.Val77Ile) rs369525803 0.00010
NM_052989.3(IFT122):c.2992A>G (p.Ile998Val) rs115715082 0.00009
NM_052989.3(IFT122):c.3570G>T (p.Leu1190=) rs146778076 0.00009
NM_052989.3(IFT122):c.3698G>A (p.Arg1233His) rs201755623 0.00009
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739 0.00009
NM_052989.3(IFT122):c.2600C>T (p.Pro867Leu) rs147499719 0.00008
NM_052989.3(IFT122):c.2721G>A (p.Ala907=) rs371570973 0.00008
NM_052989.3(IFT122):c.938G>A (p.Arg313Gln) rs376018883 0.00008
NM_052989.3(IFT122):c.1489-16G>A rs576753615 0.00007
NM_052989.3(IFT122):c.2215C>T (p.Leu739Phe) rs763332787 0.00007
NM_052989.3(IFT122):c.2375+13C>T rs749785449 0.00007
NM_052989.3(IFT122):c.272+1G>A rs372483083 0.00007
NM_052989.3(IFT122):c.1150C>T (p.Arg384Trp) rs139079256 0.00006
NM_052989.3(IFT122):c.1758C>G (p.His586Gln) rs141889207 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.1992+7A>G rs757823317 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.3603C>T (p.Asp1201=) rs369729210 0.00006
NM_052989.3(IFT122):c.475C>T (p.Arg159Trp) rs140547512 0.00006
NM_052989.3(IFT122):c.783G>A (p.Gln261=) rs144727222 0.00006
NM_052989.3(IFT122):c.93C>T (p.Ala31=) rs374303835 0.00006
NM_052989.3(IFT122):c.228C>T (p.Ser76=) rs772835552 0.00005
NM_052989.3(IFT122):c.3217G>A (p.Val1073Ile) rs138028750 0.00005
NM_052989.3(IFT122):c.3309T>G (p.Thr1103=) rs749601918 0.00005
NM_052989.3(IFT122):c.3594G>T (p.Leu1198=) rs775936679 0.00005
NM_052989.3(IFT122):c.876C>T (p.Gly292=) rs768782991 0.00005
NM_052989.3(IFT122):c.937C>T (p.Arg313Trp) rs755493101 0.00005
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.2650+12A>G rs777744869 0.00004
NM_052989.3(IFT122):c.2681C>T (p.Ala894Val) rs376549217 0.00004
NM_052989.3(IFT122):c.273-260T>C rs369997431 0.00004
NM_052989.3(IFT122):c.273-346C>T rs778846137 0.00004
NM_052989.3(IFT122):c.2895G>A (p.Pro965=) rs771092154 0.00004
NM_052989.3(IFT122):c.2904C>T (p.Val968=) rs140575442 0.00004
NM_052989.3(IFT122):c.2988-6C>T rs749670705 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 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.3267C>T (p.Asp1089=) rs759436069 0.00004
NM_052989.3(IFT122):c.3333C>T (p.Ile1111=) rs991750889 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_052989.3(IFT122):c.563+7T>C rs371311619 0.00004
NM_052989.3(IFT122):c.849C>T (p.Pro283=) rs771115196 0.00004
NM_052989.3(IFT122):c.1207A>C (p.Ile403Leu) rs149915993 0.00003
NM_052989.3(IFT122):c.1488+10C>T rs766274915 0.00003
NM_052989.3(IFT122):c.1503C>T (p.Phe501=) rs113871672 0.00003
NM_052989.3(IFT122):c.1526T>C (p.Val509Ala) rs191420441 0.00003
NM_052989.3(IFT122):c.1795G>A (p.Gly599Ser) rs758194778 0.00003
NM_052989.3(IFT122):c.2736T>C (p.Asn912=) rs752961918 0.00003
NM_052989.3(IFT122):c.3087C>A (p.Ala1029=) rs777602970 0.00003
NM_052989.3(IFT122):c.3144C>T (p.His1048=) rs777717739 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_052989.3(IFT122):c.564-15A>G rs919325670 0.00003
NM_052989.3(IFT122):c.669C>T (p.Tyr223=) rs139008392 0.00003
NM_052989.3(IFT122):c.732C>T (p.Asp244=) rs202074599 0.00003
NM_052989.3(IFT122):c.978G>A (p.Thr326=) rs781409395 0.00003
NM_052989.3(IFT122):c.1148-1G>C rs755005244 0.00002
NM_052989.3(IFT122):c.1506G>C (p.Val502=) rs754396913 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.2548-20T>A rs764768307 0.00002
NM_052989.3(IFT122):c.2628T>C (p.Asp876=) rs750912015 0.00002
NM_052989.3(IFT122):c.2652G>A (p.Ala884=) rs201147770 0.00002
NM_052989.3(IFT122):c.2668C>T (p.Arg890Ter) rs1039467525 0.00002
NM_052989.3(IFT122):c.291A>G (p.Gln97=) rs569507011 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.3228C>T (p.Asn1076=) rs367891133 0.00002
NM_052989.3(IFT122):c.3233G>T (p.Arg1078Leu) rs1269892119 0.00002
NM_052989.3(IFT122):c.3234C>T (p.Arg1078=) rs781733102 0.00002
NM_052989.3(IFT122):c.3504G>C (p.Val1168=) rs368239028 0.00002
NM_052989.3(IFT122):c.3677A>G (p.His1226Arg) rs750154715 0.00002
NM_052989.3(IFT122):c.394A>G (p.Ser132Gly) rs1048830398 0.00002
NM_052989.3(IFT122):c.42-17C>G rs752213678 0.00002
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.1147+10A>T rs750848733 0.00001
NM_052989.3(IFT122):c.1170T>G (p.Leu390=) rs1292603855 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.1467A>G (p.Leu489=) rs373424989 0.00001
NM_052989.3(IFT122):c.1487A>G (p.Gln496Arg) rs1203426032 0.00001
NM_052989.3(IFT122):c.1590C>T (p.Ala530=) rs755545448 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.2223T>C (p.Ser741=) rs764418590 0.00001
NM_052989.3(IFT122):c.227G>A (p.Ser76Asn) rs1012943423 0.00001
NM_052989.3(IFT122):c.2298C>T (p.Ala766=) rs1007388408 0.00001
NM_052989.3(IFT122):c.2299G>A (p.Ala767Thr) rs199856807 0.00001
NM_052989.3(IFT122):c.2403C>T (p.Asp801=) rs779236068 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.273-211dup rs1559868678 0.00001
NM_052989.3(IFT122):c.2730G>A (p.Arg910=) rs765560540 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.2941C>T (p.Leu981=) rs1578129875 0.00001
NM_052989.3(IFT122):c.3114T>G (p.Gly1038=) rs769225639 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.3327C>A (p.Ser1109=) rs1464353928 0.00001
NM_052989.3(IFT122):c.349+4C>T rs753626217 0.00001
NM_052989.3(IFT122):c.3636+9C>T rs765137728 0.00001
NM_052989.3(IFT122):c.410G>C (p.Cys137Ser) rs1278478989 0.00001
NM_052989.3(IFT122):c.416+17C>T rs773053690 0.00001
NM_052989.3(IFT122):c.444G>A (p.Ala148=) rs772967589 0.00001
NM_052989.3(IFT122):c.645T>C (p.Pro215=) rs146397021 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
NC_000003.11:g.(?_129159174)_(129214470_?)del
NC_000003.11:g.(?_129168694)_(129236457_?)dup
NM_052989.3(IFT122):c.1008+17T>G rs2077967767
NM_052989.3(IFT122):c.1008+3A>C
NM_052989.3(IFT122):c.1008+9A>G
NM_052989.3(IFT122):c.1009-12C>G
NM_052989.3(IFT122):c.1009-17G>A
NM_052989.3(IFT122):c.1009-5C>T
NM_052989.3(IFT122):c.1044C>T (p.Tyr348=)
NM_052989.3(IFT122):c.108+10dup
NM_052989.3(IFT122):c.108+15T>C
NM_052989.3(IFT122):c.108+4G>A rs1559838129
NM_052989.3(IFT122):c.1088A>G (p.Tyr363Cys)
NM_052989.3(IFT122):c.109-10C>T rs2107928880
NM_052989.3(IFT122):c.109-14G>C
NM_052989.3(IFT122):c.109-7T>C
NM_052989.3(IFT122):c.1092C>T (p.Ala364=)
NM_052989.3(IFT122):c.1128C>T (p.His376=)
NM_052989.3(IFT122):c.1141C>T (p.Gln381Ter)
NM_052989.3(IFT122):c.1147+12_1147+17del
NM_052989.3(IFT122):c.1148-2A>G
NM_052989.3(IFT122):c.1168C>T (p.Leu390Phe) rs2108292713
NM_052989.3(IFT122):c.1188C>T (p.Ile396=) rs1030774694
NM_052989.3(IFT122):c.1198C>T (p.Arg400Ter)
NM_052989.3(IFT122):c.1199G>A (p.Arg400Gln) rs1405512091
NM_052989.3(IFT122):c.1220A>G (p.Glu407Gly)
NM_052989.3(IFT122):c.1272C>T (p.Tyr424=)
NM_052989.3(IFT122):c.1274G>T (p.Arg425Leu)
NM_052989.3(IFT122):c.1275G>A (p.Arg425=) rs2108293656
NM_052989.3(IFT122):c.1276_1277insAATGCATG (p.Val426fs)
NM_052989.3(IFT122):c.127G>A (p.Gly43Ser)
NM_052989.3(IFT122):c.132C>G (p.Thr44=) rs371772807
NM_052989.3(IFT122):c.1331A>G (p.Asn444Ser)
NM_052989.3(IFT122):c.1350+20A>G
NM_052989.3(IFT122):c.1350+7A>G
NM_052989.3(IFT122):c.1350+9C>A
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.1386G>A (p.Val462=)
NM_052989.3(IFT122):c.1393C>A (p.Arg465=)
NM_052989.3(IFT122):c.1394G>A (p.Arg465Gln)
NM_052989.3(IFT122):c.1410G>A (p.Glu470=)
NM_052989.3(IFT122):c.1411T>G (p.Ser471Ala)
NM_052989.3(IFT122):c.1432dup (p.Val478fs) rs2108311256
NM_052989.3(IFT122):c.1461C>A (p.Gly487=)
NM_052989.3(IFT122):c.1488+16C>A rs371107052
NM_052989.3(IFT122):c.1488+16C>T
NM_052989.3(IFT122):c.1488+19C>A
NM_052989.3(IFT122):c.1488G>A (p.Gln496=) rs2078432243
NM_052989.3(IFT122):c.1489-17C>T
NM_052989.3(IFT122):c.1511A>G (p.Asn504Ser)
NM_052989.3(IFT122):c.1524C>T (p.Ile508=)
NM_052989.3(IFT122):c.1552C>T (p.Arg518Cys)
NM_052989.3(IFT122):c.1572C>G (p.Ala524=)
NM_052989.3(IFT122):c.1590C>A (p.Ala530=) rs755545448
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.1635C>T (p.Thr545=)
NM_052989.3(IFT122):c.1644G>T (p.Leu548=) rs1211494967
NM_052989.3(IFT122):c.1653+18G>A
NM_052989.3(IFT122):c.1654-16T>C rs2078911744
NM_052989.3(IFT122):c.1654-20C>G rs774202017
NM_052989.3(IFT122):c.1659A>G (p.Pro553=)
NM_052989.3(IFT122):c.165T>C (p.Thr55=)
NM_052989.3(IFT122):c.1704C>G (p.Leu568=)
NM_052989.3(IFT122):c.1713G>T (p.Ser571=) rs150174636
NM_052989.3(IFT122):c.1726C>T (p.Leu576Phe)
NM_052989.3(IFT122):c.1758C>T (p.His586=)
NM_052989.3(IFT122):c.1785C>T (p.Val595=)
NM_052989.3(IFT122):c.1787G>T (p.Gly596Val)
NM_052989.3(IFT122):c.1793A>G (p.Asn598Ser)
NM_052989.3(IFT122):c.180A>G (p.Ala60=)
NM_052989.3(IFT122):c.1828A>G (p.Ile610Val)
NM_052989.3(IFT122):c.1836C>T (p.Ala612=)
NM_052989.3(IFT122):c.1845G>A (p.Val615=)
NM_052989.3(IFT122):c.1848G>A (p.Pro616=)
NM_052989.3(IFT122):c.1851+3A>G
NM_052989.3(IFT122):c.1851+8G>A
NM_052989.3(IFT122):c.1852-11A>C
NM_052989.3(IFT122):c.1852-13T>C
NM_052989.3(IFT122):c.1852-14A>G
NM_052989.3(IFT122):c.1852-8T>C
NM_052989.3(IFT122):c.185C>T (p.Ala62Val)
NM_052989.3(IFT122):c.1868A>G (p.Gln623Arg)
NM_052989.3(IFT122):c.186G>A (p.Ala62=)
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.1913G>C (p.Cys638Ser)
NM_052989.3(IFT122):c.1915T>C (p.Leu639=)
NM_052989.3(IFT122):c.193+2T>G
NM_052989.3(IFT122):c.194-17T>C
NM_052989.3(IFT122):c.194-4T>C
NM_052989.3(IFT122):c.1950C>G (p.Ala650=)
NM_052989.3(IFT122):c.1959G>A (p.Ala653=)
NM_052989.3(IFT122):c.1963del (p.Glu655fs)
NM_052989.3(IFT122):c.1983A>G (p.Thr661=)
NM_052989.3(IFT122):c.1992+10T>C
NM_052989.3(IFT122):c.1992+17C>T
NM_052989.3(IFT122):c.1992G>A (p.Lys664=)
NM_052989.3(IFT122):c.1993-11C>A
NM_052989.3(IFT122):c.1993-13T>C
NM_052989.3(IFT122):c.1993-16T>C
NM_052989.3(IFT122):c.1993-7G>A rs2285354
NM_052989.3(IFT122):c.1993-7G>C rs2285354
NM_052989.3(IFT122):c.1993-8_1993-7delinsTC rs2108448349
NM_052989.3(IFT122):c.199C>T (p.Arg67Cys)
NM_052989.3(IFT122):c.2038A>G (p.Ser680Gly)
NM_052989.3(IFT122):c.2063G>A (p.Gly688Glu)
NM_052989.3(IFT122):c.2064del (p.Glu689fs)
NM_052989.3(IFT122):c.2087T>G (p.Leu696Arg)
NM_052989.3(IFT122):c.2112G>A (p.Gly704=)
NM_052989.3(IFT122):c.2121T>C (p.His707=) rs763504971
NM_052989.3(IFT122):c.2127C>T (p.Ala709=)
NM_052989.3(IFT122):c.2148T>C (p.Ser716=) rs2108483305
NM_052989.3(IFT122):c.2163C>T (p.Leu721=)
NM_052989.3(IFT122):c.2165C>T (p.Ala722Val) rs143662777
NM_052989.3(IFT122):c.2181C>T (p.Thr727=) rs545131069
NM_052989.3(IFT122):c.2208+7T>C
NM_052989.3(IFT122):c.2226A>T (p.Gly742=)
NM_052989.3(IFT122):c.2232C>T (p.Pro744=)
NM_052989.3(IFT122):c.2233A>G (p.Lys745Glu)
NM_052989.3(IFT122):c.2301C>G (p.Ala767=) rs540474261
NM_052989.3(IFT122):c.2301C>T (p.Ala767=)
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.2313C>A (p.Tyr771Ter)
NM_052989.3(IFT122):c.231TAT[1] (p.Ile79del)
NM_052989.3(IFT122):c.2331C>T (p.His777=)
NM_052989.3(IFT122):c.2332G>T (p.Val778Phe) rs139943115
NM_052989.3(IFT122):c.2375+14C>T
NM_052989.3(IFT122):c.2382C>T (p.Ile794=)
NM_052989.3(IFT122):c.2384A>C (p.Asp795Ala)
NM_052989.3(IFT122):c.2388C>T (p.Ile796=)
NM_052989.3(IFT122):c.2392C>T (p.Arg798Cys)
NM_052989.3(IFT122):c.2409T>C (p.Ala803=)
NM_052989.3(IFT122):c.2430G>A (p.Leu810=)
NM_052989.3(IFT122):c.243A>G (p.Thr81=)
NM_052989.3(IFT122):c.2452C>T (p.Leu818=)
NM_052989.3(IFT122):c.2454G>A (p.Leu818=)
NM_052989.3(IFT122):c.2465G>T (p.Gly822Val)
NM_052989.3(IFT122):c.2496T>C (p.Gly832=)
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.2547+18C>G
NM_052989.3(IFT122):c.2547G>A (p.Glu849=)
NM_052989.3(IFT122):c.2548-11C>T
NM_052989.3(IFT122):c.2548-18A>G
NM_052989.3(IFT122):c.2548-19C>A
NM_052989.3(IFT122):c.2548-19C>T
NM_052989.3(IFT122):c.2559G>A (p.Leu853=)
NM_052989.3(IFT122):c.2568G>A (p.Lys856=)
NM_052989.3(IFT122):c.2588A>G (p.Asp863Gly)
NM_052989.3(IFT122):c.2601G>A (p.Pro867=)
NM_052989.3(IFT122):c.2630G>A (p.Arg877His) rs561698295
NM_052989.3(IFT122):c.2645A>G (p.Gln882Arg)
NM_052989.3(IFT122):c.2650+20A>C rs148941657
NM_052989.3(IFT122):c.2650+20A>G
NM_052989.3(IFT122):c.2652G>T (p.Ala884=)
NM_052989.3(IFT122):c.2672A>G (p.Gln891Arg) rs2082199852
NM_052989.3(IFT122):c.2676A>G (p.Arg892=)
NM_052989.3(IFT122):c.2683G>A (p.Val895Ile)
NM_052989.3(IFT122):c.2703C>A (p.Leu901=)
NM_052989.3(IFT122):c.2705_2706del (p.Thr902fs)
NM_052989.3(IFT122):c.272+14G>T
NM_052989.3(IFT122):c.2724G>A (p.Glu908=)
NM_052989.3(IFT122):c.273-16G>C
NM_052989.3(IFT122):c.273-212C>T
NM_052989.3(IFT122):c.273-245C>T
NM_052989.3(IFT122):c.273-257C>A
NM_052989.3(IFT122):c.273-266G>A
NM_052989.3(IFT122):c.273-283A>G
NM_052989.3(IFT122):c.273-292A>G
NM_052989.3(IFT122):c.273-313G>C
NM_052989.3(IFT122):c.273-323C>T
NM_052989.3(IFT122):c.273-334T>G
NM_052989.3(IFT122):c.273-341dup
NM_052989.3(IFT122):c.273-374_273-369dup
NM_052989.3(IFT122):c.273-388T>A rs1009331489
NM_052989.3(IFT122):c.2777T>C (p.Leu926Pro)
NM_052989.3(IFT122):c.2778C>T (p.Leu926=)
NM_052989.3(IFT122):c.2783T>A (p.Ile928Lys) rs747428443
NM_052989.3(IFT122):c.2791+1G>A
NM_052989.3(IFT122):c.2792-12T>A
NM_052989.3(IFT122):c.2792-13C>T
NM_052989.3(IFT122):c.2792-14G>A
NM_052989.3(IFT122):c.2799C>T (p.Ala933=)
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.2886+19C>T
NM_052989.3(IFT122):c.2886G>A (p.Thr962=)
NM_052989.3(IFT122):c.2887-15T>A
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.2909G>T (p.Arg970Leu)
NM_052989.3(IFT122):c.2913T>C (p.Pro971=)
NM_052989.3(IFT122):c.2943G>A (p.Leu981=)
NM_052989.3(IFT122):c.2970C>T (p.Pro990=)
NM_052989.3(IFT122):c.2972C>T (p.Ser991Leu)
NM_052989.3(IFT122):c.2987+12C>G
NM_052989.3(IFT122):c.2987+17C>A
NM_052989.3(IFT122):c.2987+17C>G
NM_052989.3(IFT122):c.2988-13C>T
NM_052989.3(IFT122):c.2988-5G>A
NM_052989.3(IFT122):c.2999T>G (p.Phe1000Cys)
NM_052989.3(IFT122):c.299C>T (p.Ser100Phe)
NM_052989.3(IFT122):c.3003C>G (p.Thr1001=)
NM_052989.3(IFT122):c.3013C>T (p.Gln1005Ter)
NM_052989.3(IFT122):c.3027C>A (p.Leu1009=)
NM_052989.3(IFT122):c.304A>C (p.Asn102His)
NM_052989.3(IFT122):c.3051C>T (p.His1017=) rs538635135
NM_052989.3(IFT122):c.3067C>T (p.Arg1023Cys)
NM_052989.3(IFT122):c.3076_3080delinsGTA (p.Tyr1026fs)
NM_052989.3(IFT122):c.3088A>G (p.Arg1030Gly)
NM_052989.3(IFT122):c.3115A>G (p.Thr1039Ala)
NM_052989.3(IFT122):c.3123C>T (p.Thr1041=)
NM_052989.3(IFT122):c.3124A>G (p.Ile1042Val)
NM_052989.3(IFT122):c.3127C>T (p.Arg1043Cys) rs555281580
NM_052989.3(IFT122):c.3147C>T (p.Asp1049=)
NM_052989.3(IFT122):c.3153+12G>A
NM_052989.3(IFT122):c.3153+15C>A
NM_052989.3(IFT122):c.3154-12G>A
NM_052989.3(IFT122):c.3154-15G>T
NM_052989.3(IFT122):c.3175C>T (p.Arg1059Cys)
NM_052989.3(IFT122):c.3180C>A (p.Cys1060Ter)
NM_052989.3(IFT122):c.3192C>T (p.Asn1064=)
NM_052989.3(IFT122):c.3194dup (p.Leu1066fs)
NM_052989.3(IFT122):c.3195G>A (p.Pro1065=)
NM_052989.3(IFT122):c.3240C>T (p.Pro1080=)
NM_052989.3(IFT122):c.3255C>T (p.Ala1085=)
NM_052989.3(IFT122):c.3265+1G>A
NM_052989.3(IFT122):c.3265+5G>A
NM_052989.3(IFT122):c.3265+7C>G
NM_052989.3(IFT122):c.3265+8C>G
NM_052989.3(IFT122):c.3266-11A>G
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.3318A>G (p.Glu1106=)
NM_052989.3(IFT122):c.3354C>T (p.Pro1118=)
NM_052989.3(IFT122):c.3359G>A (p.Arg1120Gln)
NM_052989.3(IFT122):c.3373C>G (p.Leu1125Val)
NM_052989.3(IFT122):c.3378G>A (p.Glu1126=)
NM_052989.3(IFT122):c.3381T>C (p.Ile1127=)
NM_052989.3(IFT122):c.3384A>T (p.Ala1128=)
NM_052989.3(IFT122):c.3392-4C>G
NM_052989.3(IFT122):c.3392-5T>G rs2108728720
NM_052989.3(IFT122):c.3392-6C>T
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.3422dup (p.Asp1142fs)
NM_052989.3(IFT122):c.3426_3430del (p.Ser1143fs) rs1299632365
NM_052989.3(IFT122):c.3431_3432delinsCT (p.Ile1144Thr)
NM_052989.3(IFT122):c.3471+11C>T
NM_052989.3(IFT122):c.3471+13C>T
NM_052989.3(IFT122):c.3471+7G>T
NM_052989.3(IFT122):c.3471+7_3471+34del rs762356612
NM_052989.3(IFT122):c.3472-19C>A
NM_052989.3(IFT122):c.347_348del (p.Phe116fs)
NM_052989.3(IFT122):c.348T>C (p.Phe116=)
NM_052989.3(IFT122):c.349+12T>G
NM_052989.3(IFT122):c.349+1G>A rs1559869525
NM_052989.3(IFT122):c.3490G>A (p.Val1164Met)
NM_052989.3(IFT122):c.350-14A>G
NM_052989.3(IFT122):c.350-9G>A
NM_052989.3(IFT122):c.3504G>A (p.Val1168=)
NM_052989.3(IFT122):c.3506G>C (p.Ser1169Thr)
NM_052989.3(IFT122):c.3509G>A (p.Arg1170Gln)
NM_052989.3(IFT122):c.3520C>T (p.Arg1174Cys)
NM_052989.3(IFT122):c.3536G>A (p.Arg1179Gln) rs766429633
NM_052989.3(IFT122):c.3536G>C (p.Arg1179Pro)
NM_052989.3(IFT122):c.3553C>T (p.Arg1185Ter)
NM_052989.3(IFT122):c.3563del (p.Pro1188fs)
NM_052989.3(IFT122):c.356G>A (p.Trp119Ter)
NM_052989.3(IFT122):c.3575G>A (p.Trp1192Ter)
NM_052989.3(IFT122):c.3576G>A (p.Trp1192Ter)
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.3630C>T (p.Cys1210=)
NM_052989.3(IFT122):c.3637-11T>C
NM_052989.3(IFT122):c.3637-13T>C rs2084584710
NM_052989.3(IFT122):c.3681C>T (p.Gly1227=)
NM_052989.3(IFT122):c.3687C>T (p.Cys1229=)
NM_052989.3(IFT122):c.3720C>T (p.Gly1240=)
NM_052989.3(IFT122):c.3723A>C (p.Pro1241=)
NM_052989.3(IFT122):c.384del (p.Lys128fs)
NM_052989.3(IFT122):c.39C>T (p.His13=)
NM_052989.3(IFT122):c.41+16G>A
NM_052989.3(IFT122):c.41+8G>A
NM_052989.3(IFT122):c.410G>A (p.Cys137Tyr) rs1278478989
NM_052989.3(IFT122):c.411C>T (p.Cys137=)
NM_052989.3(IFT122):c.416+13C>T
NM_052989.3(IFT122):c.416+19del rs2108102299
NM_052989.3(IFT122):c.416+2T>G rs2108101855
NM_052989.3(IFT122):c.417-6A>G
NM_052989.3(IFT122):c.419G>A (p.Trp140Ter)
NM_052989.3(IFT122):c.42-6G>T rs757753414
NM_052989.3(IFT122):c.42T>C (p.Cys14=)
NM_052989.3(IFT122):c.443_449dup (p.Met151fs)
NM_052989.3(IFT122):c.445C>T (p.Leu149=)
NM_052989.3(IFT122):c.458A>G (p.Asn153Ser)
NM_052989.3(IFT122):c.462G>A (p.Gly154=)
NM_052989.3(IFT122):c.476G>A (p.Arg159Gln)
NM_052989.3(IFT122):c.507C>T (p.Ile169=) rs139962927
NM_052989.3(IFT122):c.516G>A (p.Pro172=)
NM_052989.3(IFT122):c.516G>T (p.Pro172=) rs748272790
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.563+18C>T
NM_052989.3(IFT122):c.567A>G (p.Arg189=)
NM_052989.3(IFT122):c.588C>T (p.Asn196=)
NM_052989.3(IFT122):c.612T>C (p.Asp204=)
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.690A>G (p.Ala230=)
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.72A>G (p.Gly24=)
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.795C>T (p.Phe265=) rs2077133706
NM_052989.3(IFT122):c.806G>A (p.Ser269Asn) rs2108198145
NM_052989.3(IFT122):c.807T>G (p.Ser269Arg)
NM_052989.3(IFT122):c.816+10C>A
NM_052989.3(IFT122):c.816+12T>C rs2077135597
NM_052989.3(IFT122):c.817A>G (p.Ile273Val)
NM_052989.3(IFT122):c.852C>G (p.Cys284Trp) rs1268071941
NM_052989.3(IFT122):c.894G>A (p.Gly298=) rs1300966652
NM_052989.3(IFT122):c.903C>T (p.Asp301=)
NM_052989.3(IFT122):c.916_917del (p.Leu306fs)
NM_052989.3(IFT122):c.928G>A (p.Asp310Asn)
NM_052989.3(IFT122):c.977C>T (p.Thr326Met) rs1389723772
NM_052989.3(IFT122):c.982C>T (p.Gln328Ter)
NM_052989.3(IFT122):c.993G>A (p.Pro331=)

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