ClinVar Miner

List of variants in gene ANK2 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val) rs45570339 0.00327
NM_001148.6(ANK2):c.1401A>G (p.Ala467=) rs142159132 0.00269
NM_001148.6(ANK2):c.10371G>A (p.Thr3457=) rs142908806 0.00203
NM_001148.6(ANK2):c.3255G>T (p.Ala1085=) rs56173868 0.00156
NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys) rs149963885 0.00052
NM_001148.6(ANK2):c.2727T>A (p.Thr909=) rs144548535 0.00036
NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg) rs371787039 0.00014
NM_001148.6(ANK2):c.8903T>C (p.Val2968Ala) rs751095004 0.00012
NM_001148.6(ANK2):c.10126G>A (p.Gly3376Arg) rs1171741008 0.00001

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