ClinVar Miner

List of variants in gene ANKRD11 studied for Intellectual disability

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_013275.6(ANKRD11):c.6065C>T (p.Pro2022Leu) rs373218212 0.00051
NM_013275.6(ANKRD11):c.3437C>T (p.Thr1146Met) rs150325340 0.00024
NM_013275.6(ANKRD11):c.6095C>T (p.Pro2032Leu) rs746355740 0.00006
NM_013275.6(ANKRD11):c.5150A>T (p.Glu1717Val) rs551558075 0.00003
NM_013275.6(ANKRD11):c.3743C>T (p.Ala1248Val) rs752060365 0.00002
NM_013275.6(ANKRD11):c.3812C>T (p.Ser1271Leu) rs767520089 0.00001
NM_013275.6(ANKRD11):c.5575T>C (p.Ser1859Pro) rs1318992601 0.00001
NM_013275.6(ANKRD11):c.1677G>A (p.Trp559Ter) rs1411134954
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2262_2265del (p.Glu755fs) rs2034490973
NM_013275.6(ANKRD11):c.2297_2300del (p.Lys766fs) rs2034487965
NM_013275.6(ANKRD11):c.2904del (p.Glu969fs) rs2034440990
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter) rs1064793539
NM_013275.6(ANKRD11):c.3932G>A (p.Arg1311Gln) rs534628110
NM_013275.6(ANKRD11):c.4022C>T (p.Pro1341Leu) rs1456520981
NM_013275.6(ANKRD11):c.4067del (p.Ser1356fs) rs2034340511
NM_013275.6(ANKRD11):c.4112C>T (p.Ala1371Val) rs2034337101
NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter) rs749632782
NM_013275.6(ANKRD11):c.4384dup (p.Arg1462fs) rs886041521
NM_013275.6(ANKRD11):c.4434C>G (p.Asp1478Glu) rs1239629602
NM_013275.6(ANKRD11):c.4554del (p.Arg1519fs) rs2034289118
NM_013275.6(ANKRD11):c.5160C>G (p.His1720Gln) rs1035902808
NM_013275.6(ANKRD11):c.5323G>T (p.Ala1775Ser) rs559618415
NM_013275.6(ANKRD11):c.6469del (p.Glu2157fs) rs2034054366
NM_013275.6(ANKRD11):c.6833_6834del (p.Thr2278fs) rs2151733047
NM_013275.6(ANKRD11):c.6882_6883del (p.Glu2295fs) rs2033996047
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs) rs1555525088
NM_013275.6(ANKRD11):c.7189C>T (p.Gln2397Ter) rs2033955113
NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg) rs1131691512
NM_013275.6(ANKRD11):c.87+4del rs2036995523
NM_013275.6(ANKRD11):c.998del (p.Asn333fs) rs2034590529

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