ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 259
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HGVS dbSNP gnomAD frequency
NM_130839.5(UBE3A):c.1960-277C>T rs34020669 0.12167
NM_130839.5(UBE3A):c.-164-5921T>A rs12899875 0.12156
NM_130839.5(UBE3A):c.2499-152T>C rs17115485 0.11928
NM_130839.5(UBE3A):c.-164-178_-164-177dup rs137888437 0.04004
NM_130839.5(UBE3A):c.2499-219A>G rs10047992 0.03189
NM_130839.5(UBE3A):c.20+251T>C rs116271705 0.03029
NM_130839.5(UBE3A):c.1773A>G (p.Glu591=) rs34670662 0.02620
NM_130839.5(UBE3A):c.*23C>A rs955490436 0.01841
NM_130839.5(UBE3A):c.-164-5870T>G rs76369560 0.01402
NM_130839.5(UBE3A):c.1754-271A>G rs75606291 0.01175
NM_130839.5(UBE3A):c.362-115C>T rs116216054 0.00962
NM_130839.5(UBE3A):c.-100-312C>T rs185254524 0.00920
NM_130839.5(UBE3A):c.1754-161G>C rs8023329 0.00909
NM_130839.5(UBE3A):c.2354+164C>T rs112494329 0.00873
NM_130839.5(UBE3A):c.20+545G>A rs115841099 0.00580
NM_130839.5(UBE3A):c.1608+304C>G rs117769430 0.00566
NM_130839.5(UBE3A):c.2124+9T>C rs79328837 0.00454
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_130839.5(UBE3A):c.2499-34del rs564915971 0.00204
NM_130839.5(UBE3A):c.*199A>G rs182421497 0.00179
NM_130839.5(UBE3A):c.-100-195A>G rs762874140 0.00165
NM_130839.5(UBE3A):c.618A>T (p.Ala206=) rs143484751 0.00121
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027 0.00117
NM_130839.5(UBE3A):c.1753+1121C>A rs757526251 0.00097
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033 0.00096
NM_130839.5(UBE3A):c.927G>A (p.Ala309=) rs576963061 0.00013
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=) rs371154816 0.00009
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) rs139928148 0.00009
NM_130839.5(UBE3A):c.986A>G (p.Asn329Ser) rs556829175 0.00009
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr) rs202161423 0.00007
NM_130839.5(UBE3A):c.1228T>C (p.Leu410=) rs143310195 0.00006
NM_130839.5(UBE3A):c.2322C>T (p.Asp774=) rs759095902 0.00006
NM_130839.5(UBE3A):c.342C>T (p.Gly114=) rs142726511 0.00006
NM_130839.5(UBE3A):c.1052A>G (p.Asn351Ser) rs747932207 0.00005
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=) rs143000400 0.00005
NM_130839.5(UBE3A):c.20+473G>A rs759994828 0.00005
NM_130839.5(UBE3A):c.647A>C (p.Gln216Pro) rs144950303 0.00005
NM_130839.5(UBE3A):c.1006A>C (p.Met336Leu) rs372526793 0.00004
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) rs141984760 0.00004
NM_130839.5(UBE3A):c.1482T>C (p.Asn494=) rs776564692 0.00004
NM_130839.5(UBE3A):c.1728G>A (p.Val576=) rs749731066 0.00004
NM_130839.5(UBE3A):c.20+447A>G rs751766501 0.00004
NM_130839.5(UBE3A):c.*4A>G rs755581358 0.00003
NM_130839.5(UBE3A):c.1032T>C (p.Ile344=) rs755119609 0.00003
NM_130839.5(UBE3A):c.1289G>T (p.Gly430Val) rs1260300451 0.00003
NM_130839.5(UBE3A):c.2355G>A (p.Arg785=) rs587783103 0.00003
NM_130839.5(UBE3A):c.295G>T (p.Gly99Cys) rs774533700 0.00003
NM_130839.5(UBE3A):c.305A>G (p.Asn102Ser) rs201577750 0.00003
NM_130839.5(UBE3A):c.46A>G (p.Ile16Val) rs777538399 0.00003
NM_130839.5(UBE3A):c.582A>G (p.Ala194=) rs764101035 0.00003
NM_130839.5(UBE3A):c.789C>T (p.Asn263=) rs1453409055 0.00003
NM_130839.5(UBE3A):c.1854G>C (p.Leu618=) rs370142725 0.00002
NM_130839.5(UBE3A):c.2065A>G (p.Met689Val) rs755765955 0.00002
NM_130839.5(UBE3A):c.2135A>G (p.Asn712Ser) rs916720140 0.00002
NM_130839.5(UBE3A):c.412A>G (p.Arg138Gly) rs587783100 0.00002
NM_130839.5(UBE3A):c.511A>T (p.Thr171Ser) rs140245963 0.00002
NM_130839.5(UBE3A):c.1138G>A (p.Val380Ile) rs751838524 0.00001
NM_130839.5(UBE3A):c.1165C>A (p.His389Asn) rs928551764 0.00001
NM_130839.5(UBE3A):c.1176A>T (p.Glu392Asp) rs587784510 0.00001
NM_130839.5(UBE3A):c.1305T>A (p.Asp435Glu) rs587783102 0.00001
NM_130839.5(UBE3A):c.1310G>A (p.Arg437Gln) rs765813410 0.00001
NM_130839.5(UBE3A):c.1568A>G (p.Lys523Arg) rs1384754256 0.00001
NM_130839.5(UBE3A):c.1754-3T>C rs1398256620 0.00001
NM_130839.5(UBE3A):c.1754-4A>G rs780429591 0.00001
NM_130839.5(UBE3A):c.175C>T (p.Arg59Cys) rs587783098 0.00001
NM_130839.5(UBE3A):c.176G>A (p.Arg59His) rs587784511 0.00001
NM_130839.5(UBE3A):c.1936C>T (p.Arg646Cys) rs746286431 0.00001
NM_130839.5(UBE3A):c.1945G>A (p.Gly649Arg) rs747626553 0.00001
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=) rs371296838 0.00001
NM_130839.5(UBE3A):c.20+7T>C rs771812460 0.00001
NM_130839.5(UBE3A):c.2104A>G (p.Ile702Val) rs751477028 0.00001
NM_130839.5(UBE3A):c.235C>T (p.Leu79Phe) rs2081076923 0.00001
NM_130839.5(UBE3A):c.2400A>T (p.Arg800Ser) rs1446392769 0.00001
NM_130839.5(UBE3A):c.2402T>A (p.Leu801His) rs1057520393 0.00001
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=) rs587780991 0.00001
NM_130839.5(UBE3A):c.2420C>T (p.Thr807Met) rs587783148 0.00001
NM_130839.5(UBE3A):c.290C>T (p.Ser97Leu) rs772110423 0.00001
NM_130839.5(UBE3A):c.356T>G (p.Phe119Cys) rs753429030 0.00001
NM_130839.5(UBE3A):c.493C>T (p.Arg165Trp) rs1085307791 0.00001
NM_130839.5(UBE3A):c.512C>G (p.Thr171Ser) rs1383474985 0.00001
NM_130839.5(UBE3A):c.63-5T>G rs587783144 0.00001
NM_130839.5(UBE3A):c.650G>C (p.Gly217Ala) rs777672019 0.00001
NM_130839.5(UBE3A):c.671T>C (p.Leu224Ser) rs587782922 0.00001
NM_130839.5(UBE3A):c.744A>G (p.Lys248=) rs367996463 0.00001
NM_130839.5(UBE3A):c.806C>T (p.Thr269Met) rs1459066021 0.00001
NM_130839.5(UBE3A):c.819A>G (p.Val273=) rs370294710 0.00001
NM_130839.5(UBE3A):c.858C>T (p.Ile286=) rs61740972 0.00001
NM_130838.2(UBE3A):c.[255_259del;269del]
NM_130839.5(UBE3A):c.*12del rs745340054
NM_130839.5(UBE3A):c.*22_*35del rs573271880
NM_130839.5(UBE3A):c.*3CAAAA[1] (p.Ter873=) rs587782926
NM_130839.5(UBE3A):c.*3CAAAA[2] (p.Ter873=) rs587782926
NM_130839.5(UBE3A):c.*3_*17del (p.Ter873=) rs587782926
NM_130839.5(UBE3A):c.-100-317del rs34285975
NM_130839.5(UBE3A):c.-164-3898dup rs57736236
NM_130839.5(UBE3A):c.-164-969dup rs202014453
NM_130839.5(UBE3A):c.1040A>C (p.Lys347Thr)
NM_130839.5(UBE3A):c.1059T>G (p.Phe353Leu) rs768524039
NM_130839.5(UBE3A):c.1065T>C (p.Ser355=)
NM_130839.5(UBE3A):c.1066C>T (p.Arg356Ter) rs2080238010
NM_130839.5(UBE3A):c.1133C>G (p.Ala378Gly) rs1219606975
NM_130839.5(UBE3A):c.1153G>T (p.Val385Leu) rs763388142
NM_130839.5(UBE3A):c.1179T>A (p.Asp393Glu) rs143000400
NM_130839.5(UBE3A):c.1187_1188insAG (p.Pro397fs)
NM_130839.5(UBE3A):c.1192A>G (p.Ile398Val) rs200380619
NM_130839.5(UBE3A):c.1204A>C (p.Ser402Arg)
NM_130839.5(UBE3A):c.1207G>A (p.Glu403Lys) rs1555400239
NM_130839.5(UBE3A):c.1207G>T (p.Glu403Ter) rs1555400239
NM_130839.5(UBE3A):c.1219C>T (p.Gln407Ter)
NM_130839.5(UBE3A):c.1221G>A (p.Gln407=) rs1460036615
NM_130839.5(UBE3A):c.1237G>T (p.Glu413Ter) rs886043612
NM_130839.5(UBE3A):c.1241_1247del (p.Arg414fs) rs886041283
NM_130839.5(UBE3A):c.1244_1253dup (p.Gly419fs) rs886041603
NM_130839.5(UBE3A):c.1261C>T (p.Arg421Ter) rs587781196
NM_130839.5(UBE3A):c.1277A>C (p.Glu426Ala) rs2152820840
NM_130839.5(UBE3A):c.130G>A (p.Glu44Lys) rs1555403204
NM_130839.5(UBE3A):c.1325C>T (p.Pro442Leu) rs2152820660
NM_130839.5(UBE3A):c.1407_1408del (p.Asn470fs) rs587784512
NM_130839.5(UBE3A):c.140C>T (p.Thr47Met)
NM_130839.5(UBE3A):c.1415T>A (p.Phe472Tyr)
NM_130839.5(UBE3A):c.1421T>C (p.Phe474Ser)
NM_130839.5(UBE3A):c.1457A>G (p.Lys486Arg)
NM_130839.5(UBE3A):c.1458G>T (p.Lys486Asn)
NM_130839.5(UBE3A):c.1471T>G (p.Tyr491Asp) rs1555399980
NM_130839.5(UBE3A):c.1472_1476del (p.Leu490_Tyr491insTer) rs863225068
NM_130839.5(UBE3A):c.1474T>C (p.Tyr492His) rs2152820213
NM_130839.5(UBE3A):c.1480A>G (p.Asn494Asp) rs1057517876
NM_130839.5(UBE3A):c.1504C>T (p.Arg502Ter) rs1555399937
NM_130839.5(UBE3A):c.153_154dup (p.Ala52fs) rs886041451
NM_130839.5(UBE3A):c.1541dup (p.Gln515fs) rs1064796224
NM_130839.5(UBE3A):c.1546T>C (p.Leu516=) rs2152820037
NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys) rs1064793307
NM_130839.5(UBE3A):c.1577G>A (p.Arg526His) rs1064795012
NM_130839.5(UBE3A):c.1583A>G (p.His528Arg)
NM_130839.5(UBE3A):c.1606C>T (p.Arg536Trp) rs1385940029
NM_130839.5(UBE3A):c.1607_1608delinsTGCTAGACAA (p.Arg536fs) rs398124438
NM_130839.5(UBE3A):c.1608+1G>A rs1555399890
NM_130839.5(UBE3A):c.1609-11T>C rs1555393315
NM_130839.5(UBE3A):c.1609-303_1609-302insCTAA rs3043907
NM_130839.5(UBE3A):c.1609-57dup rs369867124
NM_130839.5(UBE3A):c.1609-8A>G rs2077891986
NM_130839.5(UBE3A):c.161G>A (p.Cys54Tyr) rs1301123423
NM_130839.5(UBE3A):c.1621G>A (p.Ala541Thr) rs755392575
NM_130839.5(UBE3A):c.1673G>A (p.Gly558Glu)
NM_130839.5(UBE3A):c.1704C>T (p.Ser568=) rs1177834519
NM_130839.5(UBE3A):c.1708G>C (p.Glu570Gln) rs2152730028
NM_130839.5(UBE3A):c.1708_1710del (p.Glu570del) rs1064796545
NM_130839.5(UBE3A):c.1754-2A>C rs587780579
NM_130839.5(UBE3A):c.1767del (p.Thr588_Tyr589insTer) rs2152701181
NM_130839.5(UBE3A):c.1789dup (p.Trp597fs) rs1595601899
NM_130839.5(UBE3A):c.1822_1823del (p.Gln608fs) rs794727738
NM_130839.5(UBE3A):c.1834_1837del (p.Ile612fs) rs587784520
NM_130839.5(UBE3A):c.1836T>C (p.Ile612=) rs1595601233
NM_130839.5(UBE3A):c.1906A>G (p.Arg636Gly)
NM_130839.5(UBE3A):c.1933T>C (p.Phe645Leu) rs398124439
NM_130839.5(UBE3A):c.1933T>G (p.Phe645Val) rs398124439
NM_130839.5(UBE3A):c.1937G>A (p.Arg646His) rs374601913
NM_130839.5(UBE3A):c.1953_1954del (p.His652fs) rs886039516
NM_130839.5(UBE3A):c.1969C>T (p.Gln657Ter) rs2077173386
NM_130839.5(UBE3A):c.1972A>C (p.Ser658Arg) rs2152694134
NM_130839.5(UBE3A):c.199A>G (p.Ile67Val) rs587783146
NM_130839.5(UBE3A):c.20+402A>G
NM_130839.5(UBE3A):c.2032C>T (p.Gln678Ter) rs587781213
NM_130839.5(UBE3A):c.2035A>G (p.Ile679Val)
NM_130839.5(UBE3A):c.2049dup (p.Leu684fs)
NM_130839.5(UBE3A):c.21-55dup rs35086186
NM_130839.5(UBE3A):c.211G>A (p.Glu71Lys) rs1207660411
NM_130839.5(UBE3A):c.2125-1G>A rs1064795001
NM_130839.5(UBE3A):c.2125-259_2125-257del rs145678595
NM_130839.5(UBE3A):c.2125-96_2125-94del rs562275288
NM_130839.5(UBE3A):c.2134A>C (p.Asn712His) rs1555389918
NM_130839.5(UBE3A):c.2147A>T (p.Asp716Val) rs2076978794
NM_130839.5(UBE3A):c.2155C>T (p.Leu719Phe) rs2076977707
NM_130839.5(UBE3A):c.2238_2240del (p.Leu746del) rs2076968392
NM_130839.5(UBE3A):c.2281-40_2281-38del rs2066728
NM_130839.5(UBE3A):c.2323G>A (p.Gly775Ser) rs1566887391
NM_130839.5(UBE3A):c.2340C>G (p.Asp780Glu)
NM_130839.5(UBE3A):c.2357A>C (p.Glu786Ala) rs2152515522
NM_130839.5(UBE3A):c.2376T>C (p.His792=) rs2152515457
NM_130839.5(UBE3A):c.2391del (p.Glu797fs) rs1595376260
NM_130839.5(UBE3A):c.2406C>A (p.Phe802Leu) rs2152515292
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala) rs374519603
NM_130839.5(UBE3A):c.2419del (p.Thr807fs)
NM_130839.5(UBE3A):c.242A>G (p.Asp81Gly)
NM_130839.5(UBE3A):c.2430_2433del (p.Asp810fs) rs587781225
NM_130839.5(UBE3A):c.2433_2434del (p.Arg811fs) rs886039476
NM_130839.5(UBE3A):c.2438C>T (p.Pro813Leu) rs2074497888
NM_130839.5(UBE3A):c.2469dup (p.Ile824fs) rs886041289
NM_130839.5(UBE3A):c.247C>T (p.His83Tyr) rs1452134414
NM_130839.5(UBE3A):c.2483G>T (p.Gly828Val) rs2074492359
NM_130839.5(UBE3A):c.248A>G (p.His83Arg) rs2152848042
NM_130839.5(UBE3A):c.2503C>T (p.Pro835Ser) rs1555379920
NM_130839.5(UBE3A):c.2519G>C (p.Cys840Ser) rs868694099
NM_130839.5(UBE3A):c.2535_2544dup (p.Tyr849fs) rs2074302214
NM_130839.5(UBE3A):c.2555A>G (p.Lys852Arg)
NM_130839.5(UBE3A):c.2563C>T (p.Leu855Phe) rs587783097
NM_130839.5(UBE3A):c.2563_2566del (p.Leu855fs) rs398124440
NM_130839.5(UBE3A):c.2563_2566dup (p.Lys856delinsThrTer) rs398124440
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.2567_2568dup (p.Glu857fs) rs587781231
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.2567_2570dup (p.Leu859fs) rs587784527
NM_130839.5(UBE3A):c.2571_2574del (p.Glu857fs) rs886041252
NM_130839.5(UBE3A):c.2586C>T (p.Ala862=)
NM_130839.5(UBE3A):c.2589C>A (p.Ile863=) rs1414220524
NM_130839.5(UBE3A):c.2596del (p.Ala866fs) rs1064797196
NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp) rs587784528
NM_130839.5(UBE3A):c.2617_*12del (p.Ter873del) rs2074282420
NM_130839.5(UBE3A):c.283G>C (p.Glu95Gln)
NM_130839.5(UBE3A):c.307A>G (p.Asn103Asp) rs2081069977
NM_130839.5(UBE3A):c.333C>A (p.Asn111Lys) rs1417154910
NM_130839.5(UBE3A):c.340G>A (p.Gly114Ser)
NM_130839.5(UBE3A):c.357T>G (p.Phe119Leu) rs2152847522
NM_130839.5(UBE3A):c.362A>G (p.Asp121Gly)
NM_130839.5(UBE3A):c.367A>G (p.Thr123Ala) rs1211073576
NM_130839.5(UBE3A):c.372_375del (p.Thr123_Tyr124insTer) rs587780570
NM_130839.5(UBE3A):c.377_381del (p.Thr126fs) rs587784529
NM_130839.5(UBE3A):c.393del (p.Val130_Tyr131insTer) rs1595816114
NM_130839.5(UBE3A):c.400C>T (p.Leu134Phe) rs566793027
NM_130839.5(UBE3A):c.409T>C (p.Cys137Arg) rs587782907
NM_130839.5(UBE3A):c.419G>A (p.Arg140Lys)
NM_130839.5(UBE3A):c.422A>G (p.Glu141Gly)
NM_130839.5(UBE3A):c.463dup (p.Ser155fs) rs587780572
NM_130839.5(UBE3A):c.517del (p.Glu173fs) rs1131691801
NM_130839.5(UBE3A):c.535C>T (p.Gln179Ter) rs2080305309
NM_130839.5(UBE3A):c.546_547insCT (p.Glu183fs) rs786200996
NM_130839.5(UBE3A):c.570G>T (p.Lys190Asn) rs780715298
NM_130839.5(UBE3A):c.587C>T (p.Ser196Phe) rs2152823217
NM_130839.5(UBE3A):c.592G>T (p.Ala198Ser) rs147145506
NM_130839.5(UBE3A):c.62+289_62+293del rs71127053
NM_130839.5(UBE3A):c.626C>G (p.Ser209Ter) rs1566961418
NM_130839.5(UBE3A):c.62T>C (p.Met21Thr) rs587780577
NM_130839.5(UBE3A):c.63-14_63-7del rs794727306
NM_130839.5(UBE3A):c.63-68_63-66del rs71418040
NM_130839.5(UBE3A):c.645A>C (p.Ser215=)
NM_130839.5(UBE3A):c.654C>T (p.Asp218=) rs1057523244
NM_130839.5(UBE3A):c.654CAA[1] (p.Asn220del) rs763097042
NM_130839.5(UBE3A):c.675C>A (p.Gly225=) rs1595812490
NM_130839.5(UBE3A):c.676C>T (p.Pro226Ser) rs2152822794
NM_130839.5(UBE3A):c.677C>G (p.Pro226Arg)
NM_130839.5(UBE3A):c.67C>T (p.Arg23Ter) rs1490279918
NM_130839.5(UBE3A):c.720C>A (p.Tyr240Ter) rs755078197
NM_130839.5(UBE3A):c.721A>G (p.Thr241Ala)
NM_130839.5(UBE3A):c.744A>T (p.Lys248Asn) rs367996463
NM_130839.5(UBE3A):c.767C>A (p.Ala256Glu) rs1566960274
NM_130839.5(UBE3A):c.827del (p.Arg276fs) rs886039448
NM_130839.5(UBE3A):c.858C>A (p.Ile286=) rs61740972
NM_130839.5(UBE3A):c.858C>G (p.Ile286Met)
NM_130839.5(UBE3A):c.859G>A (p.Val287Ile) rs1064794579
NM_130839.5(UBE3A):c.870T>C (p.Asn290=) rs61740969
NM_130839.5(UBE3A):c.901A>G (p.Met301Val) rs587783147
NM_130839.5(UBE3A):c.91G>A (p.Glu31Lys) rs2152848642
NM_130839.5(UBE3A):c.926C>G (p.Ala309Gly) rs1057524508
NM_130839.5(UBE3A):c.940C>A (p.Pro314Thr)
NM_130839.5(UBE3A):c.943C>T (p.Leu315Phe) rs2152822041
NM_130839.5(UBE3A):c.948_950del (p.Ala317del) rs398124441
NM_130839.5(UBE3A):c.960A>G (p.Lys320=) rs2152821993
NM_130839.5(UBE3A):c.988_989delinsTT (p.Ala330Leu) rs2152821892

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