ClinVar Miner

List of variants reported as likely benign for Cranioectodermal dysplasia 1 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 225
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HGVS dbSNP gnomAD frequency
NM_052989.3(IFT122):c.617T>C (p.Ile206Thr) rs59912693 0.00184
NM_052989.3(IFT122):c.3244A>G (p.Ile1082Val) rs143490747 0.00120
NM_052989.3(IFT122):c.2749T>G (p.Tyr917Asp) rs146818399 0.00088
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.3487T>A (p.Phe1163Ile) rs200606803 0.00057
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.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.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.531G>A (p.Ser177=) rs150496357 0.00021
NM_052989.3(IFT122):c.2424G>C (p.Leu808=) rs148188237 0.00020
NM_052989.3(IFT122):c.1821C>A (p.Val607=) rs141632773 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.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.2721G>A (p.Ala907=) rs371570973 0.00008
NM_052989.3(IFT122):c.1489-16G>A rs576753615 0.00007
NM_052989.3(IFT122):c.1758C>G (p.His586Gln) rs141889207 0.00006
NM_052989.3(IFT122):c.3603C>T (p.Asp1201=) rs369729210 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.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.2650+12A>G rs777744869 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.3267C>T (p.Asp1089=) rs759436069 0.00004
NM_052989.3(IFT122):c.3333C>T (p.Ile1111=) rs991750889 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.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.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.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.1506G>C (p.Val502=) rs754396913 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.291A>G (p.Gln97=) rs569507011 0.00002
NM_052989.3(IFT122):c.3228C>T (p.Asn1076=) rs367891133 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.42-17C>G rs752213678 0.00002
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.1467A>G (p.Leu489=) rs373424989 0.00001
NM_052989.3(IFT122):c.1590C>T (p.Ala530=) rs755545448 0.00001
NM_052989.3(IFT122):c.2223T>C (p.Ser741=) rs764418590 0.00001
NM_052989.3(IFT122):c.2298C>T (p.Ala766=) rs1007388408 0.00001
NM_052989.3(IFT122):c.2403C>T (p.Asp801=) rs779236068 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.2941C>T (p.Leu981=) rs1578129875 0.00001
NM_052989.3(IFT122):c.3114T>G (p.Gly1038=) rs769225639 0.00001
NM_052989.3(IFT122):c.3327C>A (p.Ser1109=) rs1464353928 0.00001
NM_052989.3(IFT122):c.3636+9C>T rs765137728 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.1008+17T>G rs2077967767
NM_052989.3(IFT122):c.1008+9A>G
NM_052989.3(IFT122):c.1009-5C>T
NM_052989.3(IFT122):c.1044C>T (p.Tyr348=)
NM_052989.3(IFT122):c.108+15T>C
NM_052989.3(IFT122):c.109-10C>T rs2107928880
NM_052989.3(IFT122):c.109-14G>C
NM_052989.3(IFT122):c.1128C>T (p.His376=)
NM_052989.3(IFT122):c.1147+12_1147+17del
NM_052989.3(IFT122):c.1188C>T (p.Ile396=) rs1030774694
NM_052989.3(IFT122):c.1275G>A (p.Arg425=) rs2108293656
NM_052989.3(IFT122):c.132C>G (p.Thr44=) rs371772807
NM_052989.3(IFT122):c.1350+20A>G
NM_052989.3(IFT122):c.1393C>A (p.Arg465=)
NM_052989.3(IFT122):c.1410G>A (p.Glu470=)
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.1489-17C>T
NM_052989.3(IFT122):c.1572C>G (p.Ala524=)
NM_052989.3(IFT122):c.1590C>A (p.Ala530=) rs755545448
NM_052989.3(IFT122):c.1644G>T (p.Leu548=) rs1211494967
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.1704C>G (p.Leu568=)
NM_052989.3(IFT122):c.1758C>T (p.His586=)
NM_052989.3(IFT122):c.1785C>T (p.Val595=)
NM_052989.3(IFT122):c.180A>G (p.Ala60=)
NM_052989.3(IFT122):c.1848G>A (p.Pro616=)
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.186G>A (p.Ala62=)
NM_052989.3(IFT122):c.1915T>C (p.Leu639=)
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.1992+10T>C
NM_052989.3(IFT122):c.1992+17C>T
NM_052989.3(IFT122):c.1993-11C>A
NM_052989.3(IFT122):c.1993-7G>A rs2285354
NM_052989.3(IFT122):c.1993-8_1993-7delinsTC rs2108448349
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.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.2301C>G (p.Ala767=) rs540474261
NM_052989.3(IFT122):c.2301C>T (p.Ala767=)
NM_052989.3(IFT122):c.2331C>T (p.His777=)
NM_052989.3(IFT122):c.2375+14C>T
NM_052989.3(IFT122):c.2388C>T (p.Ile796=)
NM_052989.3(IFT122):c.2409T>C (p.Ala803=)
NM_052989.3(IFT122):c.2430G>A (p.Leu810=)
NM_052989.3(IFT122):c.2452C>T (p.Leu818=)
NM_052989.3(IFT122):c.2454G>A (p.Leu818=)
NM_052989.3(IFT122):c.2496T>C (p.Gly832=)
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.2601G>A (p.Pro867=)
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.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.273-323C>T
NM_052989.3(IFT122):c.273-388T>A rs1009331489
NM_052989.3(IFT122):c.2778C>T (p.Leu926=)
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.2886+19C>T
NM_052989.3(IFT122):c.2887-15T>A
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.2987+17C>A
NM_052989.3(IFT122):c.2987+17C>G
NM_052989.3(IFT122):c.2988-5G>A
NM_052989.3(IFT122):c.3003C>G (p.Thr1001=)
NM_052989.3(IFT122):c.3027C>A (p.Leu1009=)
NM_052989.3(IFT122):c.3123C>T (p.Thr1041=)
NM_052989.3(IFT122):c.3147C>T (p.Asp1049=)
NM_052989.3(IFT122):c.3154-12G>A
NM_052989.3(IFT122):c.3154-15G>T
NM_052989.3(IFT122):c.3192C>T (p.Asn1064=)
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+8C>G
NM_052989.3(IFT122):c.3266-11A>G
NM_052989.3(IFT122):c.3318A>G (p.Glu1106=)
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.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.350-9G>A
NM_052989.3(IFT122):c.3504G>A (p.Val1168=)
NM_052989.3(IFT122):c.3520C>T (p.Arg1174Cys)
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.3723A>C (p.Pro1241=)
NM_052989.3(IFT122):c.39C>T (p.His13=)
NM_052989.3(IFT122):c.41+16G>A
NM_052989.3(IFT122):c.411C>T (p.Cys137=)
NM_052989.3(IFT122):c.416+13C>T
NM_052989.3(IFT122):c.417-6A>G
NM_052989.3(IFT122):c.42-6G>T rs757753414
NM_052989.3(IFT122):c.445C>T (p.Leu149=)
NM_052989.3(IFT122):c.462G>A (p.Gly154=)
NM_052989.3(IFT122):c.507C>T (p.Ile169=) rs139962927
NM_052989.3(IFT122):c.516G>T (p.Pro172=) rs748272790
NM_052989.3(IFT122):c.563+18C>T
NM_052989.3(IFT122):c.567A>G (p.Arg189=)
NM_052989.3(IFT122):c.612T>C (p.Asp204=)
NM_052989.3(IFT122):c.690A>G (p.Ala230=)
NM_052989.3(IFT122):c.72A>G (p.Gly24=)
NM_052989.3(IFT122):c.795C>T (p.Phe265=) rs2077133706
NM_052989.3(IFT122):c.816+10C>A
NM_052989.3(IFT122):c.816+12T>C rs2077135597
NM_052989.3(IFT122):c.894G>A (p.Gly298=) rs1300966652
NM_052989.3(IFT122):c.903C>T (p.Asp301=)
NM_052989.3(IFT122):c.993G>A (p.Pro331=)

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