ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as uncertain significance by GeneDx

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Total variants: 29
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HGVS dbSNP
NM_130838.3(UBE3A):c.-15A>G rs777538399
NM_130838.3(UBE3A):c.1078G>A (p.Val360Ile) rs751838524
NM_130838.3(UBE3A):c.1116A>T (p.Glu372Asp) rs587784510
NM_130838.3(UBE3A):c.1119T>A (p.Asp373Glu) rs143000400
NM_130838.3(UBE3A):c.115C>T (p.Arg39Cys) rs587783098
NM_130838.3(UBE3A):c.1245T>A (p.Asp415Glu) rs587783102
NM_130838.3(UBE3A):c.1411T>G (p.Tyr471Asp) rs1555399980
NM_130838.3(UBE3A):c.1546C>T (p.Arg516Trp) rs1385940029
NM_130838.3(UBE3A):c.1549-11T>C rs1555393315
NM_130838.3(UBE3A):c.1561G>A (p.Ala521Thr) rs755392575
NM_130838.3(UBE3A):c.1885G>A (p.Gly629Arg) rs747626553
NM_130838.3(UBE3A):c.2036A>C (p.Lys679Thr) rs202161423
NM_130838.3(UBE3A):c.2295G>A (p.Arg765=) rs587783103
NM_130838.3(UBE3A):c.230C>T (p.Ser77Leu) rs772110423
NM_130838.3(UBE3A):c.2340A>T (p.Arg780Ser) rs1446392769
NM_130838.3(UBE3A):c.2342T>A (p.Leu781His) rs1057520393
NM_130838.3(UBE3A):c.2359A>G (p.Thr787Ala) rs374519603
NM_130838.3(UBE3A):c.2360C>T (p.Thr787Met) rs587783148
NM_130838.3(UBE3A):c.2443C>T (p.Pro815Ser) rs1555379920
NM_130838.3(UBE3A):c.2503C>T (p.Leu835Phe) rs587783097
NM_130838.3(UBE3A):c.3-5T>G rs587783144
NM_130838.3(UBE3A):c.397G>A (p.Val133Ile) rs199636913
NM_130838.3(UBE3A):c.433C>T (p.Arg145Trp) rs1085307791
NM_130838.3(UBE3A):c.452C>G (p.Thr151Ser) rs1383474985
NM_130838.3(UBE3A):c.684A>T (p.Lys228Asn) rs367996463
NM_130838.3(UBE3A):c.746C>T (p.Thr249Met) rs1459066021
NM_130838.3(UBE3A):c.755A>G (p.Asn252Ser) rs139928148
NM_130838.3(UBE3A):c.799G>A (p.Val267Ile) rs1064794579
NM_130838.3(UBE3A):c.841A>G (p.Met281Val) rs587783147

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