ClinVar Miner

List of variants in gene combination SNHG14, UBE3A studied for not provided

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Total variants: 93
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HGVS dbSNP
NM_000462.5(UBE3A):c.*3_*7CAAAA[1] (p.Ter876=) rs587782926
NM_000462.5(UBE3A):c.*4A>G
NM_000462.5(UBE3A):c.-37+7T>C
NM_000462.5(UBE3A):c.1278C>T (p.Asp426=) rs149506027
NM_000462.5(UBE3A):c.1618-303_1618-302insCTAA
NM_000462.5(UBE3A):c.2572_2575del (p.Leu858fs) rs398124440
NM_000462.5(UBE3A):c.2627A>G (p.Ter876=) rs76794400
NM_000462.5(UBE3A):c.591A>G (p.Ala197=) rs764101035
NM_001354550.2(UBE3A):c.361+3837_361+3838insTC rs786200996
NM_001354550.2(UBE3A):c.361+4898_361+4899delinsTGCTAGACAA rs398124438
NM_130838.1(UBE3A):c.3-14_3-7delAATGTTTG rs794727306
NM_130838.2(UBE3A):c.[255_259del;269del]
NM_130838.3(UBE3A):c.-15A>G rs777538399
NM_130838.3(UBE3A):c.1004G>C (p.Ser335Thr) rs141984760
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.1147G>T (p.Glu383Ter) rs1555400239
NM_130838.3(UBE3A):c.115C>T (p.Arg39Cys) rs587783098
NM_130838.3(UBE3A):c.1174_1180GAAGAAA[1] (p.Arg394fs) rs886041283
NM_130838.3(UBE3A):c.1177G>T (p.Glu393Ter) rs886043612
NM_130838.3(UBE3A):c.1184_1193dup (p.Gly399fs) rs886041603
NM_130838.3(UBE3A):c.1245T>A (p.Asp415Glu) rs587783102
NM_130838.3(UBE3A):c.1278T>C (p.Phe426=) rs371154816
NM_130838.3(UBE3A):c.139A>G (p.Ile47Val) rs587783146
NM_130838.3(UBE3A):c.1407_1411ATTAT[1] (p.Leu470_Tyr471insTer) rs863225068
NM_130838.3(UBE3A):c.1411T>G (p.Tyr471Asp) rs1555399980
NM_130838.3(UBE3A):c.1420A>G (p.Asn474Asp) rs1057517876
NM_130838.3(UBE3A):c.1444C>T (p.Arg482Ter) rs1555399937
NM_130838.3(UBE3A):c.1481dup (p.Gln495fs) rs1064796224
NM_130838.3(UBE3A):c.1516C>T (p.Arg506Cys) rs1064793307
NM_130838.3(UBE3A):c.1517G>A (p.Arg506His) rs1064795012
NM_130838.3(UBE3A):c.1546C>T (p.Arg516Trp) rs1385940029
NM_130838.3(UBE3A):c.1548+1G>A rs1555399890
NM_130838.3(UBE3A):c.1549-11T>C rs1555393315
NM_130838.3(UBE3A):c.1561G>A (p.Ala521Thr) rs755392575
NM_130838.3(UBE3A):c.1648_1650del (p.Glu550del) rs1064796545
NM_130838.3(UBE3A):c.1668G>A (p.Val556=) rs749731066
NM_130838.3(UBE3A):c.1694-271A>G
NM_130838.3(UBE3A):c.1694-2A>C rs587780579
NM_130838.3(UBE3A):c.1762_1763del (p.Gln588fs) rs794727738
NM_130838.3(UBE3A):c.1873T>C (p.Phe625Leu) rs398124439
NM_130838.3(UBE3A):c.1885G>A (p.Gly629Arg) rs747626553
NM_130838.3(UBE3A):c.1891_1892TC[1] (p.His632fs) rs886039516
NM_130838.3(UBE3A):c.1900-277C>T
NM_130838.3(UBE3A):c.1905A>G (p.Leu635=) rs371296838
NM_130838.3(UBE3A):c.2036A>C (p.Lys679Thr) rs202161423
NM_130838.3(UBE3A):c.2065-1G>A rs1064795001
NM_130838.3(UBE3A):c.2074A>C (p.Asn692His) rs1555389918
NM_130838.3(UBE3A):c.2075A>G (p.Asn692Ser) rs916720140
NM_130838.3(UBE3A):c.2294+164C>T
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.2371_2372AG[1] (p.Arg791fs) rs886039476
NM_130838.3(UBE3A):c.2409dup (p.Ile804fs) rs886041289
NM_130838.3(UBE3A):c.2439-152T>C
NM_130838.3(UBE3A):c.2439-219A>G
NM_130838.3(UBE3A):c.2443C>T (p.Pro815Ser) rs1555379920
NM_130838.3(UBE3A):c.2459G>C (p.Cys820Ser) rs868694099
NM_130838.3(UBE3A):c.2503C>T (p.Leu835Phe) rs587783097
NM_130838.3(UBE3A):c.2503_2508del (p.Leu835_Lys836del) rs863225070
NM_130838.3(UBE3A):c.2507_2510del (p.Lys836fs) rs587784527
NM_130838.3(UBE3A):c.2507_2510dup (p.Leu839fs) rs587784527
NM_130838.3(UBE3A):c.2509_2510GA[1] (p.Glu837fs) rs886041252
NM_130838.3(UBE3A):c.2536del (p.Ala846fs) rs1064797196
NM_130838.3(UBE3A):c.2549G>A (p.Gly850Asp) rs587784528
NM_130838.3(UBE3A):c.2T>C (p.Met1Thr) rs587780577
NM_130838.3(UBE3A):c.3-5T>G rs587783144
NM_130838.3(UBE3A):c.302-115C>T
NM_130838.3(UBE3A):c.307A>G (p.Thr103Ala) rs1211073576
NM_130838.3(UBE3A):c.317_321del (p.Thr106fs) rs587784529
NM_130838.3(UBE3A):c.349T>C (p.Cys117Arg) rs587782907
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.457del (p.Glu153fs) rs1131691801
NM_130838.3(UBE3A):c.566C>G (p.Ser189Ter) rs1566961418
NM_130838.3(UBE3A):c.660C>A (p.Tyr220Ter) rs755078197
NM_130838.3(UBE3A):c.684A>T (p.Lys228Asn) rs367996463
NM_130838.3(UBE3A):c.707C>A (p.Ala236Glu) rs1566960274
NM_130838.3(UBE3A):c.729C>T (p.Asn243=) rs1453409055
NM_130838.3(UBE3A):c.746C>T (p.Thr249Met) rs1459066021
NM_130838.3(UBE3A):c.767del (p.Arg256fs) rs886039448
NM_130838.3(UBE3A):c.799G>A (p.Val267Ile) rs1064794579
NM_130838.3(UBE3A):c.7C>T (p.Arg3Ter) rs1490279918
NM_130838.3(UBE3A):c.841A>G (p.Met281Val) rs587783147
NM_130838.3(UBE3A):c.866C>G (p.Ala289Gly) rs1057524508
NM_130838.3(UBE3A):c.888_890del (p.Ala297del) rs398124441
NM_130838.3(UBE3A):c.91_92TG[3] (p.Ala32fs) rs886041451
NM_130838.3(UBE3A):c.972T>C (p.Ile324=) rs755119609

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