ClinVar Miner

List of variants in gene ANKRD11 reported as pathogenic for KBG syndrome

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 236
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HGVS dbSNP gnomAD frequency
NC_000016.10:g.(?_89268458)_(89288690_?)del
NC_000016.9:g.(?_89334886)_(89371772_?)del
NC_000016.9:g.89306725_89339913del33189
NM_001256182:c.7545delG
NM_013275.6(ANKRD11):c.-145+634_-145+1315del rs2152385271
NM_013275.6(ANKRD11):c.-145+88_-145+103del rs2152388054
NM_013275.6(ANKRD11):c.1232C>A (p.Ser411Ter) rs1414996600
NM_013275.6(ANKRD11):c.1318C>T (p.Arg440Ter) rs771973198
NM_013275.6(ANKRD11):c.1372C>T (p.Arg458Ter) rs900492387
NM_013275.6(ANKRD11):c.1381_1384del (p.Glu461fs) rs1597464953
NM_013275.6(ANKRD11):c.1385_1388del (p.Thr462fs) rs2034559427
NM_013275.6(ANKRD11):c.1388_1389del (p.Lys463fs) rs1555529726
NM_013275.6(ANKRD11):c.1459G>T (p.Glu487Ter) rs2151764291
NM_013275.6(ANKRD11):c.1462_1463del (p.Ser488fs) rs1555529645
NM_013275.6(ANKRD11):c.1477_1478del (p.Arg493fs) rs1597464360
NM_013275.6(ANKRD11):c.1558del (p.Ala520fs) rs2151763801
NM_013275.6(ANKRD11):c.1583dup (p.Ser528fs)
NM_013275.6(ANKRD11):c.160C>T (p.Arg54Ter) rs749607205
NM_013275.6(ANKRD11):c.1616_1617del (p.Thr539fs)
NM_013275.6(ANKRD11):c.1621C>T (p.Gln541Ter) rs1156815415
NM_013275.6(ANKRD11):c.1645_1648del (p.Asp549fs)
NM_013275.6(ANKRD11):c.1669C>G (p.Pro557Ala)
NM_013275.6(ANKRD11):c.1679C>G (p.Ser560Ter) rs1555529551
NM_013275.6(ANKRD11):c.1731dup (p.Asp578Ter)
NM_013275.6(ANKRD11):c.1742_1743del (p.Ser580_Ser581insTer) rs2151762916
NM_013275.6(ANKRD11):c.1800dup (p.Arg601fs) rs2034524807
NM_013275.6(ANKRD11):c.1801C>T (p.Arg601Ter) rs772229371
NM_013275.6(ANKRD11):c.1893del (p.Lys631fs) rs2151762237
NM_013275.6(ANKRD11):c.1896_1897del (p.His632fs) rs2034516672
NM_013275.6(ANKRD11):c.1901_1904del (p.Thr634fs) rs2151762177
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.1948C>T (p.Gln650Ter) rs1567579525
NM_013275.6(ANKRD11):c.1976dup (p.Tyr659Ter) rs2034511189
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter) rs749201074
NM_013275.6(ANKRD11):c.1984del (p.Glu662fs)
NM_013275.6(ANKRD11):c.2022dup (p.Glu675fs)
NM_013275.6(ANKRD11):c.2047_2048del (p.Lys683fs) rs1567579092
NM_013275.6(ANKRD11):c.2054_2055del (p.Lys685fs) rs2151761605
NM_013275.6(ANKRD11):c.2088dup (p.Glu697fs)
NM_013275.6(ANKRD11):c.2090_2091del (p.Glu697fs)
NM_013275.6(ANKRD11):c.2166dup (p.Asp723fs) rs2151761217
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2177_2178del (p.Lys726fs) rs2151761128
NM_013275.6(ANKRD11):c.2184del (p.Ser729fs)
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_013275.6(ANKRD11):c.226+1G>A rs2151869895
NM_013275.6(ANKRD11):c.2273_2274del (p.Leu758fs) rs1597461334
NM_013275.6(ANKRD11):c.2273dup (p.Arg759fs) rs2151760723
NM_013275.6(ANKRD11):c.2280_2281del (p.Tyr761fs)
NM_013275.6(ANKRD11):c.2288_2289del (p.Glu763fs) rs2151760656
NM_013275.6(ANKRD11):c.2299A>T (p.Lys767Ter) rs2034488113
NM_013275.6(ANKRD11):c.2305del (p.Ser769fs) rs863223320
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter) rs1597461100
NM_013275.6(ANKRD11):c.2329_2332del (p.Glu777fs) rs2034485034
NM_013275.6(ANKRD11):c.2350G>T (p.Glu784Ter) rs2034483683
NM_013275.6(ANKRD11):c.2368G>T (p.Glu790Ter) rs2151760280
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.2404_2407del (p.Leu802fs) rs1555529181
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs) rs886039902
NM_013275.6(ANKRD11):c.2454dup (p.Asn819Ter) rs1597460545
NM_013275.6(ANKRD11):c.249del (p.Arg84fs) rs2035039338
NM_013275.6(ANKRD11):c.2512C>T (p.Arg838Ter) rs2034471125
NM_013275.6(ANKRD11):c.2516_2517del (p.Asp839fs)
NM_013275.6(ANKRD11):c.2523G>A (p.Trp841Ter) rs2151759503
NM_013275.6(ANKRD11):c.2536del (p.Ser846fs) rs1597460246
NM_013275.6(ANKRD11):c.2607dup (p.Ser870fs)
NM_013275.6(ANKRD11):c.2615_2616del (p.Ser872fs) rs2034464204
NM_013275.6(ANKRD11):c.2618_2619del (p.Val873fs) rs2034464059
NM_013275.6(ANKRD11):c.2647G>T (p.Glu883Ter) rs1135401804
NM_013275.6(ANKRD11):c.2692C>T (p.Arg898Ter) rs780011005
NM_013275.6(ANKRD11):c.2704G>T (p.Glu902Ter) rs1597459649
NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter) rs929007085
NM_013275.6(ANKRD11):c.2751dup (p.Glu918Ter) rs2034453469
NM_013275.6(ANKRD11):c.276_292del (p.Lys93fs)
NM_013275.6(ANKRD11):c.2793dup (p.Gly932fs) rs2034450158
NM_013275.6(ANKRD11):c.2803dup (p.Ser935fs)
NM_013275.6(ANKRD11):c.2826_2829del (p.Arg942fs) rs1597459077
NM_013275.6(ANKRD11):c.2828_2829del (p.Glu943fs)
NM_013275.6(ANKRD11):c.3024_3025dup (p.Lys1009fs)
NM_013275.6(ANKRD11):c.3066del (p.Thr1023fs) rs2034426153
NM_013275.6(ANKRD11):c.3122C>A (p.Ser1041Ter) rs1057518663
NM_013275.6(ANKRD11):c.3123_3126del (p.Ile1042fs)
NM_013275.6(ANKRD11):c.3127del (p.Leu1043fs) rs2151756343
NM_013275.6(ANKRD11):c.3151_3152del (p.Glu1051fs)
NM_013275.6(ANKRD11):c.3198_3199del (p.His1066fs)
NM_013275.6(ANKRD11):c.3219_3220del (p.Asp1073fs) rs2034416153
NM_013275.6(ANKRD11):c.3224_3227del (p.Glu1075fs) rs1064794330
NM_013275.6(ANKRD11):c.3239_3240del (p.Leu1080fs)
NM_013275.6(ANKRD11):c.323del (p.Gly108fs)
NM_013275.6(ANKRD11):c.3240del (p.Asp1081fs)
NM_013275.6(ANKRD11):c.3309del (p.Asp1104fs) rs772267579
NM_013275.6(ANKRD11):c.3309dup (p.Asp1104fs) rs772267579
NM_013275.6(ANKRD11):c.3319_3322del (p.Lys1107fs) rs2151755532
NM_013275.6(ANKRD11):c.3367_3368del (p.Glu1122_Ser1123insTer) rs2034404764
NM_013275.6(ANKRD11):c.3509_3512del (p.Lys1170fs)
NM_013275.6(ANKRD11):c.3562C>T (p.Arg1188Ter) rs761848111
NM_013275.6(ANKRD11):c.3586_3587del (p.Asp1196fs)
NM_013275.6(ANKRD11):c.3603_3604del (p.Val1201_Phe1202insTer)
NM_013275.6(ANKRD11):c.3632_3633del (p.Lys1211fs) rs1555528400
NM_013275.6(ANKRD11):c.3651C>A (p.Tyr1217Ter) rs2034378960
NM_013275.6(ANKRD11):c.3693_3697del (p.Asp1231fs) rs2151753736
NM_013275.6(ANKRD11):c.3704_3707del (p.Lys1235fs) rs1555528354
NM_013275.6(ANKRD11):c.3708_3709del (p.Lys1237fs) rs1567572265
NM_013275.6(ANKRD11):c.3768_3769del (p.His1256fs) rs2034368063
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_013275.6(ANKRD11):c.3770_3773del (p.Lys1257fs) rs1567571990
NM_013275.6(ANKRD11):c.3779C>A (p.Ser1260Ter)
NM_013275.6(ANKRD11):c.3787_3788del (p.Glu1263fs) rs2151753260
NM_013275.6(ANKRD11):c.3812C>A (p.Ser1271Ter)
NM_013275.6(ANKRD11):c.3835dup (p.Ser1279fs)
NM_013275.6(ANKRD11):c.3843dup (p.Glu1282Ter) rs2151753014
NM_013275.6(ANKRD11):c.3907del (p.Val1303fs)
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter) rs2034353033
NM_013275.6(ANKRD11):c.3933_3945del (p.Gly1312_Gln1313insTer) rs2034351295
NM_013275.6(ANKRD11):c.3936dup (p.Gln1313fs)
NM_013275.6(ANKRD11):c.3948del (p.Gly1316_Leu1317insTer) rs2034350757
NM_013275.6(ANKRD11):c.397+1G>A rs2151797766
NM_013275.6(ANKRD11):c.4016dup (p.Cys1339fs)
NM_013275.6(ANKRD11):c.4055_4058del (p.His1352fs) rs2151751963
NM_013275.6(ANKRD11):c.4087C>T (p.Arg1363Ter) rs1364690005
NM_013275.6(ANKRD11):c.4109_4124dup (p.Lys1376fs)
NM_013275.6(ANKRD11):c.4117A>T (p.Lys1373Ter)
NM_013275.6(ANKRD11):c.4148_4151del (p.Gly1383fs)
NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter) rs749632782
NM_013275.6(ANKRD11):c.4218C>A (p.Tyr1406Ter) rs764501022
NM_013275.6(ANKRD11):c.424C>T (p.Gln142Ter) rs1567592494
NM_013275.6(ANKRD11):c.4261G>T (p.Glu1421Ter) rs148501903
NM_013275.6(ANKRD11):c.4270del (p.Ser1424fs) rs1597452422
NM_013275.6(ANKRD11):c.4306G>T (p.Glu1436Ter)
NM_013275.6(ANKRD11):c.4334dup (p.Pro1447fs)
NM_013275.6(ANKRD11):c.4369A>T (p.Lys1457Ter)
NM_013275.6(ANKRD11):c.4370_4371del (p.Lys1457fs) rs2151750249
NM_013275.6(ANKRD11):c.4370_4373del (p.Lys1457fs)
NM_013275.6(ANKRD11):c.4381_4384del (p.Lys1461fs) rs2034307984
NM_013275.6(ANKRD11):c.4384dup (p.Arg1462fs) rs886041521
NM_013275.6(ANKRD11):c.4389_4390del (p.Lys1464fs) rs1597451815
NM_013275.6(ANKRD11):c.4396_4397del (p.Arg1466fs) rs2151750068
NM_013275.6(ANKRD11):c.439C>T (p.Gln147Ter)
NM_013275.6(ANKRD11):c.4489_4490del (p.Arg1497fs) rs2151749530
NM_013275.6(ANKRD11):c.4742_4743insAT (p.Phe1583fs)
NM_013275.6(ANKRD11):c.4750G>T (p.Glu1584Ter) rs2034272227
NM_013275.6(ANKRD11):c.4786G>T (p.Glu1596Ter) rs2034270521
NM_013275.6(ANKRD11):c.4964_4965del (p.Lys1655fs)
NM_013275.6(ANKRD11):c.505G>T (p.Glu169Ter)
NM_013275.6(ANKRD11):c.5065del (p.Leu1689fs) rs1567566026
NM_013275.6(ANKRD11):c.5117del (p.Pro1706fs) rs2151746362
NM_013275.6(ANKRD11):c.5117dup (p.Thr1707fs) rs2151746362
NM_013275.6(ANKRD11):c.5145C>G (p.Tyr1715Ter) rs1298649064
NM_013275.6(ANKRD11):c.5227C>T (p.Gln1743Ter) rs2151745705
NM_013275.6(ANKRD11):c.5233_5234del (p.Ser1745fs) rs2034218920
NM_013275.6(ANKRD11):c.5364C>G (p.Tyr1788Ter)
NM_013275.6(ANKRD11):c.5434C>T (p.Gln1812Ter)
NM_013275.6(ANKRD11):c.5437C>T (p.Gln1813Ter) rs2034195603
NM_013275.6(ANKRD11):c.5438_5439insT (p.Gln1813fs) rs2034195455
NM_013275.6(ANKRD11):c.5447del (p.Pro1816fs) rs2151744307
NM_013275.6(ANKRD11):c.5494_5495del (p.Arg1832fs) rs2151743944
NM_013275.6(ANKRD11):c.5504del (p.Leu1835fs) rs1057519399
NM_013275.6(ANKRD11):c.5524A>T (p.Lys1842Ter)
NM_013275.6(ANKRD11):c.5550C>G (p.Tyr1850Ter) rs2034182420
NM_013275.6(ANKRD11):c.5564_5565del (p.Tyr1855fs)
NM_013275.6(ANKRD11):c.5647_5651del (p.Phe1883fs) rs2151742756
NM_013275.6(ANKRD11):c.5651C>G (p.Ser1884Ter) rs1555526636
NM_013275.6(ANKRD11):c.5659C>T (p.Gln1887Ter) rs2151742685
NM_013275.6(ANKRD11):c.5682dup (p.Arg1895fs) rs1163944246
NM_013275.6(ANKRD11):c.568G>T (p.Glu190Ter) rs2151796546
NM_013275.6(ANKRD11):c.5777dup (p.Glu1927fs) rs1597443966
NM_013275.6(ANKRD11):c.5813_5817del (p.Pro1938fs)
NM_013275.6(ANKRD11):c.5833G>T (p.Glu1945Ter) rs1184729090
NM_013275.6(ANKRD11):c.5859del (p.Ser1954fs) rs2034143217
NM_013275.6(ANKRD11):c.5953_5954del (p.Gln1985fs) rs863223321
NM_013275.6(ANKRD11):c.6015dup (p.Gly2006fs) rs879253753
NM_013275.6(ANKRD11):c.6031_6041del (p.Ser2011fs) rs1597441860
NM_013275.6(ANKRD11):c.6045C>A (p.Tyr2015Ter)
NM_013275.6(ANKRD11):c.6177del (p.Ser2060fs)
NM_013275.6(ANKRD11):c.618del (p.His206fs) rs1597477691
NM_013275.6(ANKRD11):c.6197_6198delinsAA (p.Phe2066Ter) rs1555525977
NM_013275.6(ANKRD11):c.6210_6211del (p.Lys2070fs) rs863225257
NM_013275.6(ANKRD11):c.6212C>G (p.Ser2071Ter) rs763407068
NM_013275.6(ANKRD11):c.6218del (p.Pro2073fs) rs1057518987
NM_013275.6(ANKRD11):c.6298_6299dup (p.Asn2100fs)
NM_013275.6(ANKRD11):c.6320dup (p.Gly2108fs) rs2151737119
NM_013275.6(ANKRD11):c.6465del (p.Val2156fs)
NM_013275.6(ANKRD11):c.6472G>T (p.Glu2158Ter) rs869312713
NM_013275.6(ANKRD11):c.6513del (p.Val2173fs) rs1555525603
NM_013275.6(ANKRD11):c.6552_6558dup (p.Pro2187Ter) rs2151735444
NM_013275.6(ANKRD11):c.6569_6609dup (p.Glu2204fs) rs2151735043
NM_013275.6(ANKRD11):c.6596_6597insA (p.Ala2201fs) rs2151735128
NM_013275.6(ANKRD11):c.6623C>A (p.Ser2208Ter) rs2151734908
NM_013275.6(ANKRD11):c.6624_6625del (p.Glu2210fs) rs1555525517
NM_013275.6(ANKRD11):c.6670G>T (p.Glu2224Ter) rs1381957912
NM_013275.6(ANKRD11):c.6742C>T (p.Gln2248Ter) rs1597435896
NM_013275.6(ANKRD11):c.6748_6757del (p.Pro2250fs)
NM_013275.6(ANKRD11):c.6772dup (p.Ala2258fs) rs2151733753
NM_013275.6(ANKRD11):c.6786_6787insA (p.Pro2263fs) rs1135401815
NM_013275.6(ANKRD11):c.6792del (p.Ala2265fs) rs878855327
NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs) rs878855327
NM_013275.6(ANKRD11):c.6793del (p.Ala2265fs) rs2151733504
NM_013275.6(ANKRD11):c.6807_6808del (p.Ala2270fs) rs1597435393
NM_013275.6(ANKRD11):c.6836_6837del (p.Val2279fs) rs1555525296
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter) rs1221781038
NM_013275.6(ANKRD11):c.6882_6883del (p.Glu2295fs) rs2033996047
NM_013275.6(ANKRD11):c.6968_6975del (p.Ala2323fs) rs1555525115
NM_013275.6(ANKRD11):c.6968_6975dup (p.Ala2326fs) rs1555525115
NM_013275.6(ANKRD11):c.6982C>T (p.Arg2328Ter)
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs) rs1555525088
NM_013275.6(ANKRD11):c.7048C>T (p.Gln2350Ter)
NM_013275.6(ANKRD11):c.7048_7050del (p.Gln2350del)
NM_013275.6(ANKRD11):c.7062dup (p.Ser2355fs) rs886041942
NM_013275.6(ANKRD11):c.7103_7106del (p.Arg2368fs) rs2033967776
NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter) rs2151730563
NM_013275.6(ANKRD11):c.7192C>T (p.Gln2398Ter) rs1265287370
NM_013275.6(ANKRD11):c.7290C>G (p.Tyr2430Ter)
NM_013275.6(ANKRD11):c.7311_7314dup (p.Phe2439fs) rs2033941632
NM_013275.6(ANKRD11):c.7327C>T (p.Gln2443Ter) rs1555524861
NM_013275.6(ANKRD11):c.7433T>C (p.Leu2478Pro)
NM_013275.6(ANKRD11):c.744+1G>T
NM_013275.6(ANKRD11):c.7470+1G>C rs2151728882
NM_013275.6(ANKRD11):c.7470+5G>C
NM_013275.6(ANKRD11):c.7481C>G (p.Pro2494Arg) rs2151703550
NM_013275.6(ANKRD11):c.7519C>T (p.Gln2507Ter) rs572878194
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp) rs2033536147
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln) rs2033535934
NM_013275.6(ANKRD11):c.7569+1G>A rs797044890
NM_013275.6(ANKRD11):c.7570-1G>C rs863223319
NM_013275.6(ANKRD11):c.7571A>G (p.Glu2524Gly) rs2033513257
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp) rs2151701893
NM_013275.6(ANKRD11):c.7617_7629del (p.His2538_Cys2539insTer) rs2151701755
NM_013275.6(ANKRD11):c.7736G>A (p.Arg2579His)
NM_013275.6(ANKRD11):c.7806+1G>T rs2151675590
NM_013275.6(ANKRD11):c.7825C>T (p.Gln2609Ter) rs797044900
NM_013275.6(ANKRD11):c.867C>A (p.Tyr289Ter) rs761636251
NM_013275.6(ANKRD11):c.893-1G>C rs1567583835
NM_013275.6(ANKRD11):c.894_916del (p.Glu298fs) rs2034595868
NM_013275.6(ANKRD11):c.928_934del (p.Pro310fs)
NM_013275.6(ANKRD11):c.980_993del (p.Leu327fs) rs2151766539

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