ClinVar Miner

List of variants in gene ANKRD11 reported as pathogenic for Inborn genetic diseases

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Total variants: 21
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HGVS dbSNP
NM_001256182.2(ANKRD11):c.1381_1382del (p.Glu461fs) rs1555529734
NM_001256182.2(ANKRD11):c.1389del (p.Gly464fs) rs1555529726
NM_001256182.2(ANKRD11):c.1623_1630del (p.His542fs) rs1555529572
NM_001256182.2(ANKRD11):c.2130G>A (p.Trp710Ter) rs1555529297
NM_001256182.2(ANKRD11):c.2494del (p.Ser832fs) rs1555529052
NM_001256182.2(ANKRD11):c.3334dup (p.Ser1112fs) rs1555528558
NM_001256182.2(ANKRD11):c.4114G>T (p.Glu1372Ter) rs146474985
NM_001256182.2(ANKRD11):c.4140C>G (p.Tyr1380Ter) rs1555528040
NM_001256182.2(ANKRD11):c.4902del (p.Leu1635fs) rs1555527497
NM_001256182.2(ANKRD11):c.5537del (p.Leu1846fs) rs1555526796
NM_001256182.2(ANKRD11):c.6792dup (p.Ala2265fs) rs878855327
NM_001256182.2(ANKRD11):c.7303del (p.Ala2435fs) rs1555524870
NM_001256182.2(ANKRD11):c.7327C>T (p.Gln2443Ter) rs1555524861
NM_001256182.2(ANKRD11):c.7825C>T (p.Gln2609Ter) rs797044900
NM_013275.6(ANKRD11):c.1458_1459AG[2] (p.Ser488fs) rs1555529645
NM_013275.6(ANKRD11):c.1898_1902AAACA[1] (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_013275.6(ANKRD11):c.3702_3705del (p.Lys1235fs) rs1555528357
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter) rs1221781038
NM_013275.6(ANKRD11):c.7569+1G>A rs797044890

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