ClinVar Miner

List of variants in gene ANKRD11 reported as likely pathogenic for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_013275.6(ANKRD11):c.1009C>T (p.Gln337Ter) rs2151766442
NM_013275.6(ANKRD11):c.1018dup (p.Thr340fs) rs2151766359
NM_013275.6(ANKRD11):c.1063C>T (p.Gln355Ter)
NM_013275.6(ANKRD11):c.1119del (p.Glu374fs)
NM_013275.6(ANKRD11):c.1518_1536del (p.Leu507fs)
NM_013275.6(ANKRD11):c.1708_1711del (p.Thr571fs) rs2151763094
NM_013275.6(ANKRD11):c.1861A>T (p.Lys621Ter) rs2151762320
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.1974_1977dup (p.Glu660fs)
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter) rs749201074
NM_013275.6(ANKRD11):c.2006A>C (p.Asp669Ala) rs1597462279
NM_013275.6(ANKRD11):c.2063dup (p.His689fs)
NM_013275.6(ANKRD11):c.2089G>T (p.Glu697Ter) rs2151761457
NM_013275.6(ANKRD11):c.2092_2096del (p.Glu698fs) rs2034502951
NM_013275.6(ANKRD11):c.211_226+1del
NM_013275.6(ANKRD11):c.2161dup (p.Ile721fs)
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_013275.6(ANKRD11):c.2262_2265del (p.Glu755fs) rs2034490973
NM_013275.6(ANKRD11):c.226G>A (p.Glu76Lys) rs1555535454
NM_013275.6(ANKRD11):c.2297_2300del (p.Lys766fs) rs2034487965
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter) rs1597461100
NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs) rs886039902
NM_013275.6(ANKRD11):c.2499_2502del (p.Ser834fs)
NM_013275.6(ANKRD11):c.2609_2612dup (p.Asp871fs) rs1597459998
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.2647del (p.Glu883fs) rs2151758908
NM_013275.6(ANKRD11):c.277_283dup (p.Gly95fs)
NM_013275.6(ANKRD11):c.2853_2856del (p.Lys952fs) rs2151757918
NM_013275.6(ANKRD11):c.291del (p.Phe98fs)
NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter) rs752918694
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter) rs1064793539
NM_013275.6(ANKRD11):c.3201dup (p.Asp1068fs)
NM_013275.6(ANKRD11):c.3228_3232del (p.Arg1076fs)
NM_013275.6(ANKRD11):c.3268del (p.Ala1090fs)
NM_013275.6(ANKRD11):c.3547_3548del (p.Asp1183fs)
NM_013275.6(ANKRD11):c.3597_3598del (p.Lys1200fs)
NM_013275.6(ANKRD11):c.3706C>T (p.Gln1236Ter) rs1555528356
NM_013275.6(ANKRD11):c.3787_3788del (p.Glu1263fs) rs2151753260
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter) rs2034353033
NM_013275.6(ANKRD11):c.4140_4141del (p.Tyr1380_Lys1381delinsTer)
NM_013275.6(ANKRD11):c.4288A>T (p.Lys1430Ter) rs1555527929
NM_013275.6(ANKRD11):c.4306_4307del (p.Glu1436fs)
NM_013275.6(ANKRD11):c.4333_4336del (p.Leu1445fs)
NM_013275.6(ANKRD11):c.4381_4382del (p.Lys1461fs) rs2034308476
NM_013275.6(ANKRD11):c.4554del (p.Arg1519fs) rs2034289118
NM_013275.6(ANKRD11):c.4634del (p.Pro1545fs)
NM_013275.6(ANKRD11):c.496G>T (p.Glu166Ter)
NM_013275.6(ANKRD11):c.5053del (p.His1684_Met1685insTer) rs1555527341
NM_013275.6(ANKRD11):c.5089C>T (p.Gln1697Ter)
NM_013275.6(ANKRD11):c.5146G>T (p.Glu1716Ter)
NM_013275.6(ANKRD11):c.5227C>T (p.Gln1743Ter) rs2151745705
NM_013275.6(ANKRD11):c.5558dup (p.Asp1854fs)
NM_013275.6(ANKRD11):c.5865del (p.Glu1955fs) rs2034142706
NM_013275.6(ANKRD11):c.5974A>C (p.Lys1992Gln) rs763207005
NM_013275.6(ANKRD11):c.6101del (p.Leu2034fs)
NM_013275.6(ANKRD11):c.626G>A (p.Cys209Tyr)
NM_013275.6(ANKRD11):c.637del (p.Tyr213fs)
NM_013275.6(ANKRD11):c.6469del (p.Glu2157fs) rs2034054366
NM_013275.6(ANKRD11):c.6685G>T (p.Glu2229Ter)
NM_013275.6(ANKRD11):c.6739_6740insCC (p.Glu2247fs)
NM_013275.6(ANKRD11):c.6766C>T (p.Gln2256Ter) rs1168428802
NM_013275.6(ANKRD11):c.6833_6834del (p.Thr2278fs) rs2151733047
NM_013275.6(ANKRD11):c.6982C>T (p.Arg2328Ter)
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs) rs1555525088
NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter) rs2151730563
NM_013275.6(ANKRD11):c.7225G>T (p.Glu2409Ter)
NM_013275.6(ANKRD11):c.7234C>T (p.Gln2412Ter) rs886042019
NM_013275.6(ANKRD11):c.7267A>T (p.Lys2423Ter)
NM_013275.6(ANKRD11):c.7354C>G (p.Arg2452Gly) rs1064795497
NM_013275.6(ANKRD11):c.7355G>C (p.Arg2452Pro) rs781584370
NM_013275.6(ANKRD11):c.7407C>G (p.Tyr2469Ter) rs370673579
NM_013275.6(ANKRD11):c.744G>C (p.Lys248Asn) rs2151783410
NM_013275.6(ANKRD11):c.7523A>T (p.Gln2508Leu) rs2151703297
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.7544T>C (p.Leu2515Pro) rs2151703162
NM_013275.6(ANKRD11):c.7564G>A (p.Glu2522Lys) rs2033533123
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp) rs2151701893
NM_013275.6(ANKRD11):c.7607G>A (p.Arg2536Gln) rs2033511172
NM_013275.6(ANKRD11):c.7663T>C (p.Cys2555Arg)
NM_013275.6(ANKRD11):c.7684G>A (p.Glu2562Lys) rs2151701503
NM_013275.6(ANKRD11):c.7714-1G>C rs2151676035
NM_013275.6(ANKRD11):c.7736G>A (p.Arg2579His)
NM_013275.6(ANKRD11):c.7751C>A (p.Ala2584Asp) rs1555521799
NM_013275.6(ANKRD11):c.7765T>C (p.Ser2589Pro) rs2151675756
NM_013275.6(ANKRD11):c.7789A>T (p.Lys2597Ter) rs2033085976
NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg) rs1131691512
NM_013275.6(ANKRD11):c.7944C>A (p.Tyr2648Ter) rs972669347
NM_013275.6(ANKRD11):c.893-2A>G rs2151766883
NM_013275.6(ANKRD11):c.977del (p.Gly326fs) rs1555529979

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