ClinVar Miner

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

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Total variants: 10
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NM_130838.3(UBE3A):c.2065-1G>A rs1064795001
NM_130839.5(UBE3A):c.1480A>G (p.Asn494Asp) rs1057517876
NM_130839.5(UBE3A):c.1577G>A (p.Arg526His) rs1064795012
NM_130839.5(UBE3A):c.199A>G (p.Ile67Val) rs587783146
NM_130839.5(UBE3A):c.2391del (p.Glu797fs) rs1595376260
NM_130839.5(UBE3A):c.2519G>C (p.Cys840Ser) rs868694099
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del) rs863225070
NM_130839.5(UBE3A):c.2567_2568del (p.Lys856fs) rs587781231
NM_130839.5(UBE3A):c.409T>C (p.Cys137Arg) rs587782907
NM_130839.5(UBE3A):c.926C>G (p.Ala309Gly) rs1057524508

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