ClinVar Miner

List of variants in gene ANKRD1 reported as likely benign 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_014391.3(ANKRD1):c.319G>T (p.Val107Leu) rs114435632 0.00269
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_014391.3(ANKRD1):c.369G>A (p.Thr123=) rs148979787 0.00069
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_014391.3(ANKRD1):c.652-10A>T rs397517252 0.00023
NM_014391.3(ANKRD1):c.108T>C (p.Ala36=) rs145211719 0.00009
NM_014391.3(ANKRD1):c.150C>G (p.Ala50=) rs147484763 0.00006
NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe) rs397517251 0.00001

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