ClinVar Miner

List of variants in gene ANKRD1 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_014391.3(ANKRD1):c.346-15T>A rs11595794 0.01849
NM_014391.3(ANKRD1):c.348G>A (p.Thr116=) rs137914723 0.00748
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751 0.00387
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.208-16C>T rs79793575 0.00161
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_014391.3(ANKRD1):c.449A>T (p.Asp150Val) rs150266349 0.00019
NM_014391.3(ANKRD1):c.750+17G>A rs373898620 0.00010
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.652-8T>C rs753205311 0.00002

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