ClinVar Miner

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

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Total variants: 104
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HGVS dbSNP
NM_130838.1(UBE3A):c.-15A>G rs777538399
NM_130838.1(UBE3A):c.-6498G>A rs541619343
NM_130838.1(UBE3A):c.1078G>A (p.Val360Ile) rs751838524
NM_130838.1(UBE3A):c.1116A>T (p.Glu372Asp) rs587784510
NM_130838.1(UBE3A):c.1119T>A (p.Asp373Glu) rs143000400
NM_130838.1(UBE3A):c.1119T>C (p.Asp373=) rs143000400
NM_130838.1(UBE3A):c.1147G>T (p.Glu383Ter) rs1555400239
NM_130838.1(UBE3A):c.1181_1187delGAAGAAA (p.Arg394Thrfs) rs886041283
NM_130838.1(UBE3A):c.1212C>T (p.Pro404=) rs1057520392
NM_130838.1(UBE3A):c.1278T>C (p.Phe426=) rs371154816
NM_130838.1(UBE3A):c.139A>G (p.Ile47Val) rs587783146
NM_130838.1(UBE3A):c.1411T>G (p.Tyr471Asp) rs1555399980
NM_130838.1(UBE3A):c.1420A>G (p.Asn474Asp) rs1057517876
NM_130838.1(UBE3A):c.1461C>T (p.Leu487=) rs878855201
NM_130838.1(UBE3A):c.1516C>T (p.Arg506Cys) rs1064793307
NM_130838.1(UBE3A):c.1517G>A (p.Arg506His) rs1064795012
NM_130838.1(UBE3A):c.1546C>T (p.Arg516Trp) rs1385940029
NM_130838.1(UBE3A):c.1548+1G>A rs1555399890
NM_130838.1(UBE3A):c.1549-11T>C rs1555393315
NM_130838.1(UBE3A):c.1560C>T (p.Ile520=) rs1057523671
NM_130838.1(UBE3A):c.1561G>A (p.Ala521Thr) rs755392575
NM_130838.1(UBE3A):c.1648_1650delGAA (p.Glu550del) rs1064796545
NM_130838.1(UBE3A):c.1694-2A>C rs587780579
NM_130838.1(UBE3A):c.1764G>A (p.Gln588=) rs760397761
NM_130838.1(UBE3A):c.1885G>A (p.Gly629Arg) rs747626553
NM_130838.1(UBE3A):c.1893_1894delTC (p.His632Profs) rs886039516
NM_130838.1(UBE3A):c.2036A>C (p.Lys679Thr) rs202161423
NM_130838.1(UBE3A):c.2064+8A>G rs1057522487
NM_130838.1(UBE3A):c.2065-1G>A rs1064795001
NM_130838.1(UBE3A):c.2220+17C>T rs767903684
NM_130838.1(UBE3A):c.2221-15T>C rs767720713
NM_130838.1(UBE3A):c.2221-20A>G rs376920758
NM_130838.1(UBE3A):c.2284G>A (p.Val762Ile) rs587782910
NM_130838.1(UBE3A):c.230C>T (p.Ser77Leu) rs772110423
NM_130838.1(UBE3A):c.2310C>T (p.Ile770=) rs767254317
NM_130838.1(UBE3A):c.2340A>T (p.Arg780Ser) rs1446392769
NM_130838.1(UBE3A):c.2342T>A (p.Leu781His) rs1057520393
NM_130838.1(UBE3A):c.2355T>C (p.Phe785=) rs587780991
NM_130838.1(UBE3A):c.2359A>G (p.Thr787Ala) rs374519603
NM_130838.1(UBE3A):c.2373_2374delAG (p.Arg791Serfs) rs886039476
NM_130838.1(UBE3A):c.2443C>T (p.Pro815Ser) rs1555379920
NM_130838.1(UBE3A):c.2459G>C (p.Cys820Ser) rs868694099
NM_130838.1(UBE3A):c.2503C>T (p.Leu835Phe) rs587783097
NM_130838.1(UBE3A):c.2503_2508delCTTAAA (p.Leu835_Lys836del) rs863225070
NM_130838.1(UBE3A):c.2507_2510delAAGA (p.Lys836Argfs) rs587784527
NM_130838.1(UBE3A):c.2511_2514delGAGA (p.Glu837Aspfs) rs886041252
NM_130838.1(UBE3A):c.2532G>A (p.Thr844=) rs377110924
NM_130838.1(UBE3A):c.301+18C>G rs773112531
NM_130838.1(UBE3A):c.317_321delCAGAA (p.Thr106Argfs) rs587784529
NM_130838.1(UBE3A):c.349T>C (p.Cys117Arg) rs587782907
NM_130838.1(UBE3A):c.352A>G (p.Arg118Gly) rs587783100
NM_130838.1(UBE3A):c.397G>A (p.Val133Ile) rs199636913
NM_130838.1(UBE3A):c.433C>T (p.Arg145Trp) rs1085307791
NM_130838.1(UBE3A):c.452C>G (p.Thr151Ser) rs1383474985
NM_130838.1(UBE3A):c.457delG (p.Glu153Lysfs) rs1131691801
NM_130838.1(UBE3A):c.594C>T (p.Asp198=) rs1057523244
NM_130838.1(UBE3A):c.636T>C (p.Asp212=) rs1057523332
NM_130838.1(UBE3A):c.660C>A (p.Tyr220Ter) rs755078197
NM_130838.1(UBE3A):c.684A>G (p.Lys228=) rs367996463
NM_130838.1(UBE3A):c.684A>T (p.Lys228Asn) rs367996463
NM_130838.1(UBE3A):c.746C>T (p.Thr249Met) rs1459066021
NM_130838.1(UBE3A):c.755A>G (p.Asn252Ser) rs139928148
NM_130838.1(UBE3A):c.767delG (p.Arg256Glnfs) rs886039448
NM_130838.1(UBE3A):c.799G>A (p.Val267Ile) rs1064794579
NM_130838.1(UBE3A):c.7C>T (p.Arg3Ter) rs1490279918
NM_130838.1(UBE3A):c.81G>A (p.Thr27=) rs760283316
NM_130838.1(UBE3A):c.841A>G (p.Met281Val) rs587783147
NM_130838.1(UBE3A):c.866C>G (p.Ala289Gly) rs1057524508
NM_130838.1(UBE3A):c.879A>G (p.Leu293=) rs762154663
NM_130838.1(UBE3A):c.978T>C (p.Tyr326=) rs1057520481
NM_130838.2(UBE3A):c.1168T>C (p.Leu390=) rs143310195
NM_130838.2(UBE3A):c.1275G>A (p.Glu425=) rs1555400103
NM_130838.2(UBE3A):c.1693+20delG rs1161685208
NM_130838.2(UBE3A):c.1899+11T>A rs771390878
NM_130838.2(UBE3A):c.2166C>G (p.Pro722=) rs1555389825
NM_130838.2(UBE3A):c.2221-12T>C rs1297457627
NM_130838.2(UBE3A):c.2439-5_2439-2delTTTA rs1555379927
NM_130838.2(UBE3A):c.282C>A (p.Gly94=) rs142726511
NM_130838.2(UBE3A):c.447A>G (p.Gln149=) rs1555401033
NM_130838.3(UBE3A):c.-40A>G rs752810430
NM_130838.3(UBE3A):c.1004G>C (p.Ser335Thr) rs141984760
NM_130838.3(UBE3A):c.1125A>G (p.Glu375=) rs114056442
NM_130838.3(UBE3A):c.1184_1193dup (p.Gly399Lysfs) rs886041603
NM_130838.3(UBE3A):c.1209C>T (p.Asp403=) rs149506027
NM_130838.3(UBE3A):c.1344A>G (p.Thr448=) rs150331504
NM_130838.3(UBE3A):c.1481dup (p.Gln495Alafs) rs1064796224
NM_130838.3(UBE3A):c.1549-18dup rs779671805
NM_130838.3(UBE3A):c.1707C>T (p.Tyr569=) rs139082033
NM_130838.3(UBE3A):c.2064+9T>C rs79328837
NM_130838.3(UBE3A):c.2409dup (p.Ile804Tyrfs) rs886041289
NM_130838.3(UBE3A):c.2507_2510dup (p.Leu839Glufs) rs587784527
NM_130838.3(UBE3A):c.2558A>G (p.Ter853=) rs76794400
NM_130838.3(UBE3A):c.313T>C (p.Leu105=) rs61734190
NM_130838.3(UBE3A):c.417A>T (p.Ala139=) rs28528079
NM_130838.3(UBE3A):c.532G>A (p.Ala178Thr) rs147145506
NM_130838.3(UBE3A):c.558A>T (p.Ala186=) rs143484751
NM_130838.3(UBE3A):c.566C>G (p.Ser189Ter)
NM_130838.3(UBE3A):c.729C>T (p.Asn243=) rs1453409055
NM_130838.3(UBE3A):c.93_94dup (p.Ala32Valfs) rs886041451
NM_130839.2(UBE3A):c.1305T>A (p.Asp435Glu) rs587783102
NM_130839.2(UBE3A):c.175C>T (p.Arg59Cys) rs587783098
NM_130839.2(UBE3A):c.2355G>A (p.Arg785=) rs587783103
NM_130839.2(UBE3A):c.2420C>T (p.Thr807Met) rs587783148
NM_130839.2(UBE3A):c.63-5T>G rs587783144

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