ClinVar Miner

List of variants reported as pathogenic for KBG syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NC_000016.10:g.(?_89268458)_(89288690_?)del
NC_000016.10:g.(?_89268458)_(89317039_?)del
NC_000016.9:g.(?_87921735)_(89484776_?)del
NC_000016.9:g.(?_89334886)_(89341619_?)del
NC_000016.9:g.(?_89334886)_(89371772_?)del
NM_013275.6(ANKRD11):c.1199del (p.Lys400fs)
NM_013275.6(ANKRD11):c.1286C>A (p.Ser429Ter)
NM_013275.6(ANKRD11):c.1318C>T (p.Arg440Ter) rs771973198
NM_013275.6(ANKRD11):c.1357A>T (p.Lys453Ter)
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.1462_1463del (p.Ser488fs) rs1555529645
NM_013275.6(ANKRD11):c.1477_1478del (p.Arg493fs) rs1597464360
NM_013275.6(ANKRD11):c.158_170del (p.Glu53fs)
NM_013275.6(ANKRD11):c.160C>T (p.Arg54Ter) rs749607205
NM_013275.6(ANKRD11):c.1621C>T (p.Gln541Ter) rs1156815415
NM_013275.6(ANKRD11):c.1645_1648del (p.Asp549fs) rs2544244221
NM_013275.6(ANKRD11):c.1731dup (p.Asp578Ter) rs2544243922
NM_013275.6(ANKRD11):c.1801C>T (p.Arg601Ter) rs772229371
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.1976dup (p.Tyr659Ter) rs2034511189
NM_013275.6(ANKRD11):c.2022dup (p.Glu675fs) rs2544242786
NM_013275.6(ANKRD11):c.2088dup (p.Glu697fs) rs2034503530
NM_013275.6(ANKRD11):c.2162_2165del (p.Ile721fs)
NM_013275.6(ANKRD11):c.2166dup (p.Asp723fs) rs2151761217
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2184del (p.Ser729fs) rs2544242234
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_013275.6(ANKRD11):c.2273_2274del (p.Leu758fs) rs1597461334
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013275.6(ANKRD11):c.2454dup (p.Asn819Ter) rs1597460545
NM_013275.6(ANKRD11):c.2512C>T (p.Arg838Ter) rs2034471125
NM_013275.6(ANKRD11):c.2607dup (p.Ser870fs) rs2547738187
NM_013275.6(ANKRD11):c.2692C>T (p.Arg898Ter) rs780011005
NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter) rs929007085
NM_013275.6(ANKRD11):c.276_292del (p.Lys93fs) rs2544309527
NM_013275.6(ANKRD11):c.2803dup (p.Ser935fs) rs2544239869
NM_013275.6(ANKRD11):c.2828_2829del (p.Glu943fs) rs1597459077
NM_013275.6(ANKRD11):c.3028G>T (p.Glu1010Ter)
NM_013275.6(ANKRD11):c.3123_3126del (p.Ile1042fs) rs2544238629
NM_013275.6(ANKRD11):c.3198_3199del (p.His1066fs) rs1567574291
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) rs2544238198
NM_013275.6(ANKRD11):c.323del (p.Gly108fs) rs2544309375
NM_013275.6(ANKRD11):c.3240del (p.Asp1081fs) rs2544238192
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.3586_3587del (p.Asp1196fs) rs2544236847
NM_013275.6(ANKRD11):c.3603_3604del (p.Val1201_Phe1202insTer) rs2544236736
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.3931C>T (p.Arg1311Ter) rs2034353033
NM_013275.6(ANKRD11):c.3933_3945del (p.Gly1312_Gln1313insTer) rs2034351295
NM_013275.6(ANKRD11):c.3936dup (p.Gln1313fs) rs2544234953
NM_013275.6(ANKRD11):c.4016dup (p.Cys1339fs) rs2544234611
NM_013275.6(ANKRD11):c.4148_4151del (p.Gly1383fs) rs2544234065
NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter) rs749632782
NM_013275.6(ANKRD11):c.4287_4288del (p.Asp1429fs)
NM_013275.6(ANKRD11):c.4334dup (p.Pro1447fs) rs2544233297
NM_013275.6(ANKRD11):c.4370_4373del (p.Lys1457fs) rs2544233083
NM_013275.6(ANKRD11):c.4384dup (p.Arg1462fs) rs886041521
NM_013275.6(ANKRD11):c.4389_4390del (p.Lys1464fs) rs1597451815
NM_013275.6(ANKRD11):c.4510_4532del (p.Thr1504fs)
NM_013275.6(ANKRD11):c.5117dup (p.Thr1707fs) rs2151746362
NM_013275.6(ANKRD11):c.5145C>G (p.Tyr1715Ter) rs1298649064
NM_013275.6(ANKRD11):c.5233_5234del (p.Ser1745fs) rs2034218920
NM_013275.6(ANKRD11):c.5434C>T (p.Gln1812Ter) rs2544228051
NM_013275.6(ANKRD11):c.5524A>T (p.Lys1842Ter) rs2544227565
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.5833G>T (p.Glu1945Ter) rs1184729090
NM_013275.6(ANKRD11):c.5859del (p.Ser1954fs) rs2034143217
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) rs2544224725
NM_013275.6(ANKRD11):c.6177del (p.Ser2060fs) rs2544223783
NM_013275.6(ANKRD11):c.6197_6198delinsAA (p.Phe2066Ter) rs1555525977
NM_013275.6(ANKRD11):c.6218del (p.Pro2073fs) rs1057518987
NM_013275.6(ANKRD11):c.6298_6299dup (p.Asn2100fs) rs2544223027
NM_013275.6(ANKRD11):c.6320dup (p.Gly2108fs) rs2151737119
NM_013275.6(ANKRD11):c.6569_6609dup (p.Glu2204fs) rs2151735043
NM_013275.6(ANKRD11):c.6623C>A (p.Ser2208Ter) rs2151734908
NM_013275.6(ANKRD11):c.6670G>T (p.Glu2224Ter) rs1381957912
NM_013275.6(ANKRD11):c.6688_6689del (p.Arg2230fs) rs1597436476
NM_013275.6(ANKRD11):c.6772dup (p.Ala2258fs) rs2151733753
NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs) rs878855327
NM_013275.6(ANKRD11):c.6836_6837del (p.Val2279fs) rs1555525296
NM_013275.6(ANKRD11):c.6968_6975del (p.Ala2323fs) rs1555525115
NM_013275.6(ANKRD11):c.6982C>T (p.Arg2328Ter) rs1567553783
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs) rs1555525088
NM_013275.6(ANKRD11):c.7018dup (p.Arg2340fs)
NM_013275.6(ANKRD11):c.7062dup (p.Ser2355fs) rs886041942
NM_013275.6(ANKRD11):c.7192C>T (p.Gln2398Ter) rs1265287370
NM_013275.6(ANKRD11):c.7433T>C (p.Leu2478Pro) rs2544218340
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) rs1250432793
NM_013275.6(ANKRD11):c.7806+1G>T rs2151675590

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