ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
NM_130838.1(UBE3A):c.1461C>T (p.Leu487=) rs878855201
NM_130838.1(UBE3A):c.672C>T (p.Leu224=) rs1060504406
NM_130838.2(UBE3A):c.1816C>T (p.Leu606=) rs376089007
NM_130838.2(UBE3A):c.2294+10T>C rs1555389575
NM_130838.2(UBE3A):c.2295-6_2295-5insTAAT rs1555380917
NM_130838.2(UBE3A):c.921A>G (p.Lys307=) rs1555400511
NM_130838.3(UBE3A):c.1004G>C (p.Ser335Thr) rs141984760

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