ClinVar Miner

List of variants in gene ANKRD11 reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_013275.6(ANKRD11):c.1146dup (p.Ile383fs) rs2034580235
NM_013275.6(ANKRD11):c.1280_1281del (p.Arg427fs) rs2034569713
NM_013275.6(ANKRD11):c.1318C>T (p.Arg440Ter) rs771973198
NM_013275.6(ANKRD11):c.1422dup (p.Lys475fs) rs2034556621
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2329_2332del (p.Glu777fs) rs2034485034
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.2662_2666del (p.Arg888fs) rs2034460549
NM_013275.6(ANKRD11):c.2704G>T (p.Glu902Ter) rs1597459649
NM_013275.6(ANKRD11):c.3055_3059del (p.Arg1019fs) rs2034426914
NM_013275.6(ANKRD11):c.3187A>T (p.Lys1063Ter) rs2034417449
NM_013275.6(ANKRD11):c.4052_4053insT (p.Arg1351fs) rs2034342196
NM_013275.6(ANKRD11):c.4389_4390del (p.Lys1464fs) rs1597451815
NM_013275.6(ANKRD11):c.5651C>G (p.Ser1884Ter) rs1555526636
NM_013275.6(ANKRD11):c.6968_6975del (p.Ala2323fs) rs1555525115
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln) rs2033535934

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