ClinVar Miner

List of variants studied for Angelman syndrome by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 3
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 15q11.2(chr15:25354042-25357067)x1
GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1
NM_130839.5(UBE3A):c.488dup (p.Ser163fs) rs2552191808

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