ClinVar Miner

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

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Gene type:
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Total variants: 12
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HGVS dbSNP
NC_000015.9:g.(?_25584264)_(25654274_?)del
NC_000015.9:g.(?_25599480)_(25605694_?)del
NC_000015.9:g.(?_25605510)_(25605694_?)del
NC_000015.9:g.(?_25620592)_(25620930_?)del
NM_000462.5(UBE3A):c.2433_2434CA[1] (p.Thr812fs)
NM_000462.5(UBE3A):c.2544_2560del (p.Leu849fs) rs1064792950
NM_000462.5(UBE3A):c.2576_2577del (p.Lys859fs) rs587781231
NM_001354550.2(UBE3A):c.361+4613del
NM_001354550.2(UBE3A):c.361+4763_361+4767del rs863225068
NM_001354550.2(UBE3A):c.361+4891del rs1566954070
NM_130838.1(UBE3A):c.-44_*1888del
NM_130838.3(UBE3A):c.2489C>G (p.Ser830Ter) rs587781228

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