ClinVar Miner

List of variants in gene ANKRD11 reported as pathogenic by Invitae

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Total variants: 7
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HGVS dbSNP
NC_000016.10:g.(?_89268458)_(89288690_?)del
NM_013275.5(ANKRD11):c.2175_2178delCAAA (p.Asn725Lysfs) rs886039734
NM_013275.5(ANKRD11):c.2408_2412delAAAAA (p.Lys803Argfs) rs886039902
NM_013275.5(ANKRD11):c.3708_3709delGA (p.Lys1237Alafs)
NM_013275.5(ANKRD11):c.4206C>G (p.Tyr1402Ter)
NM_013275.5(ANKRD11):c.6197_6198delTCinsAA (p.Phe2066Ter) rs1555525977
NM_013275.5(ANKRD11):c.6968_6975delCCCCGAAG (p.Ala2323Glyfs) rs1555525115

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