ClinVar Miner

List of variants in gene ANKRD1 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_014391.3(ANKRD1):c.417C>A (p.Phe139Leu) rs201398260 0.00043
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.449A>T (p.Asp150Val) rs150266349 0.00019
NM_014391.3(ANKRD1):c.347C>T (p.Thr116Met) rs142354133 0.00017
NM_014391.3(ANKRD1):c.234A>T (p.Arg78Ser) rs141376679 0.00016
NM_014391.3(ANKRD1):c.256G>C (p.Asp86His) rs573892607 0.00001
NM_014391.3(ANKRD1):c.458A>T (p.Lys153Ile) rs727502889 0.00001
NM_014391.3(ANKRD1):c.805C>T (p.Arg269Ter) rs397517254 0.00001
NM_014391.3(ANKRD1):c.140C>T (p.Thr47Ile) rs727502891
NM_014391.3(ANKRD1):c.222dup (p.Leu75fs) rs776659587

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