ClinVar Miner

List of variants in gene ANKRD11 reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 22
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HGVS dbSNP
NM_013275.5(ANKRD11):c.1381_1382delGA (p.Glu461Asnfs) rs1555529734
NM_013275.5(ANKRD11):c.1389delA (p.Gly464Alafs) rs1555529726
NM_013275.5(ANKRD11):c.1462_1463delAG (p.Ser488Trpfs) rs1555529645
NM_013275.5(ANKRD11):c.1623_1630delGCACACCA (p.His542Alafs) rs1555529572
NM_013275.5(ANKRD11):c.1903_1907delAAACA (p.Lys635Glnfs) rs886041125
NM_013275.5(ANKRD11):c.2130G>A (p.Trp710Ter) rs1555529297
NM_013275.5(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_013275.5(ANKRD11):c.2494delA (p.Ser832Alafs) rs1555529052
NM_013275.5(ANKRD11):c.3138T>A (p.Cys1046Ter)
NM_013275.5(ANKRD11):c.3334dup (p.Ser1112Lysfs) rs1555528558
NM_013275.5(ANKRD11):c.3702_3705delTAAA (p.Lys1235Argfs) rs1555528357
NM_013275.5(ANKRD11):c.3770_3771delAA (p.Lys1257Argfs) rs886039477
NM_013275.5(ANKRD11):c.4114G>T (p.Glu1372Ter) rs146474985
NM_013275.5(ANKRD11):c.4140C>G (p.Tyr1380Ter) rs1555528040
NM_013275.5(ANKRD11):c.4902delT (p.Leu1635Trpfs) rs1555527497
NM_013275.5(ANKRD11):c.5537delT (p.Leu1846Cysfs) rs1555526796
NM_013275.5(ANKRD11):c.6792dup (p.Ala2265Argfs) rs878855327
NM_013275.5(ANKRD11):c.6847C>T (p.Gln2283Ter) rs1221781038
NM_013275.5(ANKRD11):c.7303delG (p.Ala2435Profs) rs1555524870
NM_013275.5(ANKRD11):c.7327C>T (p.Gln2443Ter) rs1555524861
NM_013275.5(ANKRD11):c.7569+1G>A rs797044890
NM_013275.5(ANKRD11):c.7825C>T (p.Gln2609Ter) rs797044900

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