ClinVar Miner

List of variants in gene ANKRD11 reported as likely pathogenic

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Total variants: 28
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HGVS dbSNP
NC_000016.10:g.89284215A>C
NM_001256182.2(ANKRD11):c.3882_3885dup (p.Ser1296fs)
NM_013275.6(ANKRD11):c.1283_1284TC[1] (p.Ser429fs)
NM_013275.6(ANKRD11):c.1373_1376GAAA[2] (p.Glu461fs)
NM_013275.6(ANKRD11):c.1898_1902AAACA[1] (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter) rs749201074
NM_013275.6(ANKRD11):c.2171_2174CAAA[1] (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs) rs886039902
NM_013275.6(ANKRD11):c.2684G>A (p.Arg895Gln) rs199800166
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter) rs1064793539
NM_013275.6(ANKRD11):c.3706C>T (p.Gln1236Ter) rs1555528356
NM_013275.6(ANKRD11):c.4288A>T (p.Lys1430Ter) rs1555527929
NM_013275.6(ANKRD11):c.5030_5031del (p.Lys1677fs) rs1057518578
NM_013275.6(ANKRD11):c.5053del (p.His1684_Met1685insTer) rs1555527341
NM_013275.6(ANKRD11):c.5974A>T (p.Lys1992Ter) rs763207005
NM_013275.6(ANKRD11):c.6218del (p.Pro2073fs) rs1057518987
NM_013275.6(ANKRD11):c.6436A>C (p.Lys2146Gln) rs1283976400
NM_013275.6(ANKRD11):c.6580C>T (p.Gln2194Ter) rs201589586
NM_013275.6(ANKRD11):c.674C>T (p.Ala225Val) rs746852311
NM_013275.6(ANKRD11):c.7354C>T (p.Arg2452Cys) rs1064795497
NM_013275.6(ANKRD11):c.7480C>A (p.Pro2494Thr) rs1064794992
NM_013275.6(ANKRD11):c.7735C>T (p.Arg2579Cys) rs1567537413
NM_013275.6(ANKRD11):c.7751C>A (p.Ala2584Asp) rs1555521799
NM_013275.6(ANKRD11):c.7788_7804del (p.Asp2596fs) rs1555521779
NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg) rs1131691512
NM_013275.6(ANKRD11):c.977del (p.Gly326fs) rs1555529979
NM_013275.6(ANKRD11):c.99dup (p.Val34fs) rs1567614448

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