ClinVar Miner

List of variants studied for Angelman syndrome by Génétique des Maladies du Développement, Hospices Civils de Lyon

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_130839.5(UBE3A):c.1309C>T (p.Arg437Ter) rs111033594
NM_130839.5(UBE3A):c.2273G>A (p.Gly758Glu) rs2552186598
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs) rs587784527

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