ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as likely pathogenic by Invitae

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Total variants: 4
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HGVS dbSNP
NC_000015.9:g.(?_25584264)_(25654274_?)dup
NM_130838.3(UBE3A):c.1516C>T (p.Arg506Cys) rs1064793307
NM_130838.3(UBE3A):c.2480C>T (p.Pro827Leu) rs587781239
NM_130838.3(UBE3A):c.794T>C (p.Ile265Thr) rs1566959617

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