ClinVar Miner

List of variants in gene ANKRD1 reported as likely benign by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014391.3(ANKRD1):c.-17A>G rs79341122 0.00753
NM_014391.3(ANKRD1):c.208-16C>T rs79793575 0.00161
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.750+17G>A rs373898620 0.00010
NM_014391.3(ANKRD1):c.150C>G (p.Ala50=) rs147484763 0.00006
NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe) rs397517251 0.00001
NM_014391.3(ANKRD1):c.346-19_346-18del rs398014415

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