ClinVar Miner

List of variants in gene ANKRD11 reported as pathogenic by Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_013275.6(ANKRD11):c.3425_3431delinsTCCGTCCTG (p.Asp1142fs) rs1567573538
NM_013275.6(ANKRD11):c.5469del (p.Met1825fs)
NM_013275.6(ANKRD11):c.6340C>T (p.Gln2114Ter) rs1555525792
NM_013275.6(ANKRD11):c.6923del (p.Gly2308fs) rs2151732245
NM_013275.6(ANKRD11):c.6928_6934del (p.Ile2310fs) rs2151732133

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