ClinVar Miner

List of variants studied for Angelman syndrome by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 482
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HGVS dbSNP gnomAD frequency
NM_130839.5(UBE3A):c.477A>T (p.Ala159=) rs28528079 0.03018
NM_130839.5(UBE3A):c.1773A>G (p.Glu591=) rs34670662 0.02620
NM_130839.5(UBE3A):c.373T>C (p.Leu125=) rs61734190 0.02311
NM_130839.5(UBE3A):c.1185A>G (p.Glu395=) rs114056442 0.00599
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.618A>T (p.Ala206=) rs143484751 0.00121
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027 0.00117
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033 0.00096
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=) rs150331504 0.00054
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.2281-20A>G rs376920758 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.2592G>A (p.Thr864=) rs377110924 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.1153G>A (p.Val385Met) rs763388142 0.00005
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=) rs143000400 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.1169A>G (p.Asn390Ser) rs147446244 0.00004
NM_130839.5(UBE3A):c.1482T>C (p.Asn494=) rs776564692 0.00004
NM_130839.5(UBE3A):c.1596T>C (p.Asp532=) rs748426530 0.00004
NM_130839.5(UBE3A):c.1728G>A (p.Val576=) rs749731066 0.00004
NM_130839.5(UBE3A):c.1753+8C>T rs1356350246 0.00004
NM_130839.5(UBE3A):c.1824G>A (p.Gln608=) rs760397761 0.00004
NM_130839.5(UBE3A):c.2281-9A>G rs978341458 0.00004
NM_130839.5(UBE3A):c.1032T>C (p.Ile344=) rs755119609 0.00003
NM_130839.5(UBE3A):c.1038T>C (p.Tyr346=) rs1057520481 0.00003
NM_130839.5(UBE3A):c.1289G>T (p.Gly430Val) rs1260300451 0.00003
NM_130839.5(UBE3A):c.1959+11T>A rs771390878 0.00003
NM_130839.5(UBE3A):c.2247A>G (p.Pro749=) rs753988917 0.00003
NM_130839.5(UBE3A):c.2344G>A (p.Val782Ile) rs587782910 0.00003
NM_130839.5(UBE3A):c.2355G>A (p.Arg785=) rs587783103 0.00003
NM_130839.5(UBE3A):c.291G>A (p.Ser97=) rs1411368065 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.582A>G (p.Ala194=) rs764101035 0.00003
NM_130839.5(UBE3A):c.589G>T (p.Ala197Ser) rs752711811 0.00003
NM_130839.5(UBE3A):c.789C>T (p.Asn263=) rs1453409055 0.00003
NM_130839.5(UBE3A):c.87A>G (p.Leu29=) rs771985048 0.00003
NM_130839.5(UBE3A):c.1067G>A (p.Arg356Gln) rs780050034 0.00002
NM_130839.5(UBE3A):c.1192A>C (p.Ile398Leu) rs200380619 0.00002
NM_130839.5(UBE3A):c.1273C>T (p.Leu425=) rs778060771 0.00002
NM_130839.5(UBE3A):c.141G>A (p.Thr47=) rs760283316 0.00002
NM_130839.5(UBE3A):c.1854G>C (p.Leu618=) rs370142725 0.00002
NM_130839.5(UBE3A):c.2114A>G (p.Glu705Gly) rs764195093 0.00002
NM_130839.5(UBE3A):c.2135A>G (p.Asn712Ser) rs916720140 0.00002
NM_130839.5(UBE3A):c.222G>A (p.Lys74=) rs759225128 0.00002
NM_130839.5(UBE3A):c.2499-10C>T rs776735747 0.00002
NM_130839.5(UBE3A):c.299C>T (p.Ala100Val) rs587783099 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.733T>G (p.Ser245Ala) rs760844102 0.00002
NM_130839.5(UBE3A):c.1009A>T (p.Met337Leu) rs368318081 0.00001
NM_130839.5(UBE3A):c.1134A>G (p.Ala378=) rs1055822466 0.00001
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.1272C>T (p.Pro424=) rs1057520392 0.00001
NM_130839.5(UBE3A):c.1305T>C (p.Asp435=) 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.1607G>A (p.Arg536Gln) rs779375881 0.00001
NM_130839.5(UBE3A):c.1609-10C>T rs1490784858 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.1809T>C (p.Phe603=) rs766144091 0.00001
NM_130839.5(UBE3A):c.1876C>T (p.Leu626=) rs376089007 0.00001
NM_130839.5(UBE3A):c.1881T>C (p.Asp627=) rs587784522 0.00001
NM_130839.5(UBE3A):c.189T>C (p.Asn63=) rs1378900021 0.00001
NM_130839.5(UBE3A):c.1936C>A (p.Arg646Ser) rs746286431 0.00001
NM_130839.5(UBE3A):c.1945G>A (p.Gly649Arg) rs747626553 0.00001
NM_130839.5(UBE3A):c.1959+15A>G rs1444735197 0.00001
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=) rs371296838 0.00001
NM_130839.5(UBE3A):c.2104A>G (p.Ile702Val) rs751477028 0.00001
NM_130839.5(UBE3A):c.210C>T (p.Leu70=) rs752310016 0.00001
NM_130839.5(UBE3A):c.2124+13T>G rs1477029660 0.00001
NM_130839.5(UBE3A):c.2124+8A>G rs1057522487 0.00001
NM_130839.5(UBE3A):c.2131G>A (p.Val711Ile) rs587784524 0.00001
NM_130839.5(UBE3A):c.2163A>G (p.Lys721=) rs992268686 0.00001
NM_130839.5(UBE3A):c.2216A>G (p.Asn739Ser) rs778808533 0.00001
NM_130839.5(UBE3A):c.2255T>C (p.Ile752Thr) rs1312971608 0.00001
NM_130839.5(UBE3A):c.2280+17C>T rs767903684 0.00001
NM_130839.5(UBE3A):c.2354+13del rs1566887115 0.00001
NM_130839.5(UBE3A):c.2354+16C>T rs1464903824 0.00001
NM_130839.5(UBE3A):c.2355-6_2355-5insTAAT rs1555380917 0.00001
NM_130839.5(UBE3A):c.2370C>T (p.Ile790=) rs767254317 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.2499-6A>G rs925559099 0.00001
NM_130839.5(UBE3A):c.290C>T (p.Ser97Leu) rs772110423 0.00001
NM_130839.5(UBE3A):c.330G>C (p.Met110Ile) rs781537729 0.00001
NM_130839.5(UBE3A):c.356T>G (p.Phe119Cys) rs753429030 0.00001
NM_130839.5(UBE3A):c.361+16T>A rs1285482314 0.00001
NM_130839.5(UBE3A):c.361+6A>G rs200510893 0.00001
NM_130839.5(UBE3A):c.442C>T (p.Arg148Cys) rs587783101 0.00001
NM_130839.5(UBE3A):c.457G>A (p.Val153Ile) rs199636913 0.00001
NM_130839.5(UBE3A):c.507A>G (p.Gln169=) rs1555401033 0.00001
NM_130839.5(UBE3A):c.512C>G (p.Thr171Ser) rs1383474985 0.00001
NM_130839.5(UBE3A):c.650G>C (p.Gly217Ala) rs777672019 0.00001
NM_130839.5(UBE3A):c.659A>G (p.Asn220Ser) rs528422241 0.00001
NM_130839.5(UBE3A):c.660T>C (p.Asn220=) rs201667751 0.00001
NM_130839.5(UBE3A):c.671T>C (p.Leu224Ser) rs587782922 0.00001
NM_130839.5(UBE3A):c.705C>G (p.Ala235=) rs149824737 0.00001
NM_130839.5(UBE3A):c.744A>G (p.Lys248=) rs367996463 0.00001
NM_130839.5(UBE3A):c.768A>G (p.Ala256=) rs762172890 0.00001
NM_130839.5(UBE3A):c.790G>A (p.Val264Met) rs745363984 0.00001
NM_130839.5(UBE3A):c.819A>G (p.Val273=) rs370294710 0.00001
NM_130839.5(UBE3A):c.81G>A (p.Lys27=) rs937023999 0.00001
NM_130839.5(UBE3A):c.826C>A (p.Arg276=) rs997044541 0.00001
NM_130839.5(UBE3A):c.828A>G (p.Arg276=) rs1467881884 0.00001
NM_130839.5(UBE3A):c.858C>T (p.Ile286=) rs61740972 0.00001
NM_130839.5(UBE3A):c.861A>G (p.Val287=) rs1341061203 0.00001
NM_130839.5(UBE3A):c.939A>G (p.Leu313=) rs762154663 0.00001
NM_130839.5(UBE3A):c.961C>T (p.Leu321=) rs1385870007 0.00001
NC_000015.10:g.(?_24566038)_(25781223_?)del
NC_000015.10:g.(?_24566038)_(25781223_?)dup
NC_000015.10:g.(?_25339117)_(25360547_?)dup
NC_000015.10:g.(?_25339117)_(25409127_?)del
NC_000015.10:g.(?_25339137)_(25405462_?)dup
NC_000015.10:g.(?_25354333)_(25360547_?)del
NC_000015.10:g.(?_25360363)_(25360547_?)del
NC_000015.10:g.(?_25375445)_(25375783_?)del
NC_000015.10:g.25375764del
NC_000015.9:g.(?_25582396)_(25650653_?)dup
NC_000015.9:g.(?_25584264)_(25620930_?)dup
NC_000015.9:g.(?_25584264)_(25654274_?)dup
NC_000015.9:g.(?_25584273)_(25650609_?)del
NC_000015.9:g.(?_25584273)_(25650609_?)dup
NC_000015.9:g.(?_25584284)_(25585395_?)del
NC_000015.9:g.(?_25584284)_(25585395_?)dup
NC_000015.9:g.(?_25584284)_(25620930_?)dup
NC_000015.9:g.(?_25615693)_(25650609_?)del
NC_000023.10:g.(?_153287264)_(153363188_?)dup
NM_001110792.2(MECP2):c.144_147del (p.Glu49fs) rs267608426
NM_130838.1(UBE3A):c.-44_*1888del
NM_130839.5(UBE3A):c.1000C>G (p.Arg334Gly)
NM_130839.5(UBE3A):c.1001G>A (p.Arg334Gln)
NM_130839.5(UBE3A):c.1002G>A (p.Arg334=) rs1595808837
NM_130839.5(UBE3A):c.1007T>C (p.Met336Thr) rs863225071
NM_130839.5(UBE3A):c.1012G>T (p.Glu338Ter) rs2080245178
NM_130839.5(UBE3A):c.1014G>A (p.Glu338=) rs779092156
NM_130839.5(UBE3A):c.1026A>G (p.Gln342=)
NM_130839.5(UBE3A):c.1059T>C (p.Phe353=)
NM_130839.5(UBE3A):c.1060A>G (p.Asn354Asp) rs1595808009
NM_130839.5(UBE3A):c.1066C>T (p.Arg356Ter) rs2080238010
NM_130839.5(UBE3A):c.1086T>C (p.Asp362=) rs375600705
NM_130839.5(UBE3A):c.108G>A (p.Gln36=) rs926999742
NM_130839.5(UBE3A):c.1107G>A (p.Ser369=)
NM_130839.5(UBE3A):c.1122G>A (p.Met374Ile)
NM_130839.5(UBE3A):c.1131T>A (p.Tyr377Ter) rs2080231132
NM_130839.5(UBE3A):c.1133C>G (p.Ala378Gly) rs1219606975
NM_130839.5(UBE3A):c.1139T>C (p.Val380Ala)
NM_130839.5(UBE3A):c.1147G>A (p.Gly383Arg) rs764318379
NM_130839.5(UBE3A):c.1153G>T (p.Val385Leu) rs763388142
NM_130839.5(UBE3A):c.1154T>G (p.Val385Gly)
NM_130839.5(UBE3A):c.1157A>G (p.Asp386Gly) rs779940531
NM_130839.5(UBE3A):c.1160C>T (p.Thr387Ile) rs2152821323
NM_130839.5(UBE3A):c.1161A>G (p.Thr387=)
NM_130839.5(UBE3A):c.1161A>T (p.Thr387=) rs753078220
NM_130839.5(UBE3A):c.1168A>G (p.Asn390Asp) rs765910610
NM_130839.5(UBE3A):c.1173AGA[1] (p.Glu392del)
NM_130839.5(UBE3A):c.1179T>A (p.Asp393Glu) rs143000400
NM_130839.5(UBE3A):c.1184A>G (p.Glu395Gly)
NM_130839.5(UBE3A):c.1192A>G (p.Ile398Val) rs200380619
NM_130839.5(UBE3A):c.1196C>G (p.Pro399Arg) rs267604140
NM_130839.5(UBE3A):c.1199A>T (p.Glu400Val)
NM_130839.5(UBE3A):c.1206C>T (p.Ser402=) rs774072376
NM_130839.5(UBE3A):c.1221G>A (p.Gln407=) rs1460036615
NM_130839.5(UBE3A):c.1236A>C (p.Glu412Asp)
NM_130839.5(UBE3A):c.1248C>T (p.Asn416=) rs2152820982
NM_130839.5(UBE3A):c.1255G>A (p.Gly419Ser)
NM_130839.5(UBE3A):c.1285C>G (p.Leu429Val) rs1263950376
NM_130839.5(UBE3A):c.1301T>G (p.Leu434Arg)
NM_130839.5(UBE3A):c.1309C>T (p.Arg437Ter)
NM_130839.5(UBE3A):c.131A>C (p.Glu44Ala) rs2081089937
NM_130839.5(UBE3A):c.1322del (p.Ile441fs) rs1595804239
NM_130839.5(UBE3A):c.1325C>T (p.Pro442Leu) rs2152820660
NM_130839.5(UBE3A):c.1335G>A (p.Glu445=) rs1555400103
NM_130839.5(UBE3A):c.1344T>A (p.Asn448Lys)
NM_130839.5(UBE3A):c.1347A>G (p.Glu449=) rs2152820597
NM_130839.5(UBE3A):c.1359G>C (p.Glu453Asp)
NM_130839.5(UBE3A):c.1363C>G (p.Leu455Val)
NM_130839.5(UBE3A):c.1383T>C (p.Tyr461=)
NM_130839.5(UBE3A):c.1388T>C (p.Phe463Ser)
NM_130839.5(UBE3A):c.1394A>G (p.Lys465Arg)
NM_130839.5(UBE3A):c.1398A>G (p.Val466=)
NM_130839.5(UBE3A):c.1401A>G (p.Glu467=)
NM_130839.5(UBE3A):c.1407_1408del (p.Asn470fs) rs587784512
NM_130839.5(UBE3A):c.1428A>G (p.Thr476=) rs138049263
NM_130839.5(UBE3A):c.1428dup (p.Cys477fs)
NM_130839.5(UBE3A):c.1435T>A (p.Phe479Ile)
NM_130839.5(UBE3A):c.1439T>C (p.Ile480Thr)
NM_130839.5(UBE3A):c.1461T>C (p.Asn487=)
NM_130839.5(UBE3A):c.1472_1476del (p.Leu490_Tyr491insTer) rs863225068
NM_130839.5(UBE3A):c.1477G>A (p.Asp493Asn) rs2080181277
NM_130839.5(UBE3A):c.147G>T (p.Glu49Asp) rs2081087498
NM_130839.5(UBE3A):c.1497C>T (p.Tyr499=)
NM_130839.5(UBE3A):c.1504C>T (p.Arg502Ter) rs1555399937
NM_130839.5(UBE3A):c.1509A>G (p.Arg503=)
NM_130839.5(UBE3A):c.1521C>T (p.Leu507=) rs878855201
NM_130839.5(UBE3A):c.1527C>T (p.Ser509=)
NM_130839.5(UBE3A):c.1539A>G (p.Gly513=) rs2152820058
NM_130839.5(UBE3A):c.153T>C (p.Cys51=)
NM_130839.5(UBE3A):c.1554A>C (p.Pro518=)
NM_130839.5(UBE3A):c.1566C>T (p.Leu522=) rs2152820006
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.1599A>G (p.Ala533=) rs1447040234
NM_130839.5(UBE3A):c.159C>G (p.Ser53=)
NM_130839.5(UBE3A):c.159C>T (p.Ser53=)
NM_130839.5(UBE3A):c.1600del (p.Val535fs) rs1566954070
NM_130839.5(UBE3A):c.1608+3A>T
NM_130839.5(UBE3A):c.1609-11T>C rs1555393315
NM_130839.5(UBE3A):c.1609-20dup rs779671805
NM_130839.5(UBE3A):c.161G>A (p.Cys54Tyr) rs1301123423
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=) rs1057523671
NM_130839.5(UBE3A):c.1625T>G (p.Met542Arg) rs2152730267
NM_130839.5(UBE3A):c.1651C>A (p.Gln551Lys) rs113932065
NM_130839.5(UBE3A):c.1678_1699delinsT (p.Gln560_Val567delinsPhe) rs1566912450
NM_130839.5(UBE3A):c.167C>A (p.Thr56Asn) rs1431543223
NM_130839.5(UBE3A):c.1686TGA[1] (p.Asp563del) rs587782909
NM_130839.5(UBE3A):c.1710A>G (p.Glu570=)
NM_130839.5(UBE3A):c.1719G>A (p.Gln573=) rs1303052197
NM_130839.5(UBE3A):c.171T>A (p.Phe57Leu) rs2081083253
NM_130839.5(UBE3A):c.171del (p.Leu58fs) rs2152848314
NM_130839.5(UBE3A):c.172C>T (p.Leu58Phe) rs2081082912
NM_130839.5(UBE3A):c.1753+11T>G
NM_130839.5(UBE3A):c.1753+15A>G
NM_130839.5(UBE3A):c.1764A>T (p.Thr588=) rs770078054
NM_130839.5(UBE3A):c.1770T>C (p.Asp590=) rs781556374
NM_130839.5(UBE3A):c.1786T>G (p.Phe596Val) rs2152701089
NM_130839.5(UBE3A):c.178A>G (p.Met60Val) rs2081081704
NM_130839.5(UBE3A):c.1800A>G (p.Pro600=) rs754664908
NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del) rs587781234
NM_130839.5(UBE3A):c.1830T>C (p.Thr610=) rs2152700872
NM_130839.5(UBE3A):c.1858A>G (p.Ile620Val) rs2152700776
NM_130839.5(UBE3A):c.1860T>A (p.Ile620=) rs2152700765
NM_130839.5(UBE3A):c.1884A>C (p.Val628=) rs774618110
NM_130839.5(UBE3A):c.1891C>T (p.Pro631Ser) rs1310879709
NM_130839.5(UBE3A):c.1894A>G (p.Met632Val) rs2152700582
NM_130839.5(UBE3A):c.1914A>G (p.Leu638=)
NM_130839.5(UBE3A):c.1920dup (p.Lys641fs)
NM_130839.5(UBE3A):c.1933T>C (p.Phe645Leu) rs398124439
NM_130839.5(UBE3A):c.1937G>A (p.Arg646His) rs374601913
NM_130839.5(UBE3A):c.1937G>C (p.Arg646Pro) rs374601913
NM_130839.5(UBE3A):c.1937G>T (p.Arg646Leu) rs374601913
NM_130839.5(UBE3A):c.1959+14C>T
NM_130839.5(UBE3A):c.1959+8_1959+11del
NM_130839.5(UBE3A):c.1959+8del
NM_130839.5(UBE3A):c.1960-18A>G
NM_130839.5(UBE3A):c.1983T>C (p.Asp661=)
NM_130839.5(UBE3A):c.1992G>A (p.Glu664=)
NM_130839.5(UBE3A):c.1997A>C (p.Glu666Ala)
NM_130839.5(UBE3A):c.2001G>A (p.Gly667=)
NM_130839.5(UBE3A):c.2003A>G (p.Asn668Ser) rs557434570
NM_130839.5(UBE3A):c.2013T>C (p.Asp671=)
NM_130839.5(UBE3A):c.2016C>T (p.Asp672=)
NM_130839.5(UBE3A):c.2030T>C (p.Phe677Ser) rs1566894864
NM_130839.5(UBE3A):c.2032C>T (p.Gln678Ter) rs587781213
NM_130839.5(UBE3A):c.2055T>C (p.Phe685=)
NM_130839.5(UBE3A):c.2068A>T (p.Met690Leu)
NM_130839.5(UBE3A):c.2086A>G (p.Asn696Asp) rs587784523
NM_130839.5(UBE3A):c.2124+10G>A rs1595589409
NM_130839.5(UBE3A):c.2124+14T>C
NM_130839.5(UBE3A):c.2124+19T>G rs587782925
NM_130839.5(UBE3A):c.2124+1G>T rs2152693602
NM_130839.5(UBE3A):c.2124+3A>G
NM_130839.5(UBE3A):c.2124+6_2124+9del rs756899000
NM_130839.5(UBE3A):c.2124+9_2124+10insTT rs2077158910
NM_130839.5(UBE3A):c.2125-11G>A
NM_130839.5(UBE3A):c.2125-20G>A rs2152684554
NM_130839.5(UBE3A):c.2125-4A>G
NM_130839.5(UBE3A):c.2145T>C (p.Ser715=) rs2152684375
NM_130839.5(UBE3A):c.2153T>G (p.Ile718Ser)
NM_130839.5(UBE3A):c.2162A>T (p.Lys721Ile) rs1555389881
NM_130839.5(UBE3A):c.2168T>G (p.Val723Gly)
NM_130839.5(UBE3A):c.2169A>G (p.Val723=)
NM_130839.5(UBE3A):c.2181C>G (p.Phe727Leu) rs2076974201
NM_130839.5(UBE3A):c.2183A>C (p.Lys728Thr)
NM_130839.5(UBE3A):c.2204A>G (p.His735Arg)
NM_130839.5(UBE3A):c.2205T>C (p.His735=)
NM_130839.5(UBE3A):c.2224C>T (p.Pro742Ser) rs2152684043
NM_130839.5(UBE3A):c.2238_2240del (p.Leu746del) rs2076968392
NM_130839.5(UBE3A):c.2239T>C (p.Phe747Leu) rs2076968651
NM_130839.5(UBE3A):c.2239T>G (p.Phe747Val) rs2076968651
NM_130839.5(UBE3A):c.2263C>G (p.Leu755Val) rs1345019600
NM_130839.5(UBE3A):c.2265_2267dup (p.Ile756dup) rs2152683847
NM_130839.5(UBE3A):c.2268A>C (p.Ile756=)
NM_130839.5(UBE3A):c.2279G>A (p.Arg760Gln) rs761011538
NM_130839.5(UBE3A):c.2280+14dup
NM_130839.5(UBE3A):c.2280+18T>G rs200901786
NM_130839.5(UBE3A):c.2281-15T>C rs767720713
NM_130839.5(UBE3A):c.2286_2291dup (p.Leu762_Asp763dup) rs2152682847
NM_130839.5(UBE3A):c.2295A>G (p.Gln765=)
NM_130839.5(UBE3A):c.229G>A (p.Ala77Thr)
NM_130839.5(UBE3A):c.2301A>G (p.Leu767=)
NM_130839.5(UBE3A):c.2313A>G (p.Thr771=) rs2152682737
NM_130839.5(UBE3A):c.2323G>A (p.Gly775Ser) rs1566887391
NM_130839.5(UBE3A):c.2328C>A (p.Gly776=)
NM_130839.5(UBE3A):c.232A>G (p.Lys78Glu)
NM_130839.5(UBE3A):c.2343T>C (p.Ser781=)
NM_130839.5(UBE3A):c.2344_2345del (p.Val782fs) rs2076939980
NM_130839.5(UBE3A):c.2345T>C (p.Val782Ala)
NM_130839.5(UBE3A):c.2352T>C (p.Ile784=)
NM_130839.5(UBE3A):c.2354+10T>C rs1555389575
NM_130839.5(UBE3A):c.2354+12A>G rs748038950
NM_130839.5(UBE3A):c.2354+6G>A rs771697024
NM_130839.5(UBE3A):c.2354+7T>A
NM_130839.5(UBE3A):c.2355-3T>C rs2074512326
NM_130839.5(UBE3A):c.2378_2381del (p.Ser793fs) rs2074508602
NM_130839.5(UBE3A):c.2385del (p.Asp796fs) rs2152515439
NM_130839.5(UBE3A):c.2388T>C (p.Asp796=)
NM_130839.5(UBE3A):c.238T>C (p.Cys80Arg) rs2152848080
NM_130839.5(UBE3A):c.2391A>T (p.Glu797Asp)
NM_130839.5(UBE3A):c.2406_2414del (p.Leu803_Phe805del) rs1555380809
NM_130839.5(UBE3A):c.2416A>G (p.Thr806Ala) rs2074503291
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala) rs374519603
NM_130839.5(UBE3A):c.2421G>A (p.Thr807=) rs1239525577
NM_130839.5(UBE3A):c.2423G>A (p.Gly808Asp) rs2152515149
NM_130839.5(UBE3A):c.2426_2427del (p.Thr809fs) rs1595375630
NM_130839.5(UBE3A):c.2430C>T (p.Asp810=) rs1566825584
NM_130839.5(UBE3A):c.2430_2433del (p.Asp810fs) rs587781225
NM_130839.5(UBE3A):c.2430_2433dup (p.Ala812fs) rs587781225
NM_130839.5(UBE3A):c.2442G>A (p.Val814=) rs1595375310
NM_130839.5(UBE3A):c.2444G>A (p.Gly815Glu) rs1595375255
NM_130839.5(UBE3A):c.2464A>T (p.Met822Leu)
NM_130839.5(UBE3A):c.2470A>G (p.Ile824Val)
NM_130839.5(UBE3A):c.247C>T (p.His83Tyr) rs1452134414
NM_130839.5(UBE3A):c.2498+19G>C
NM_130839.5(UBE3A):c.2498+2T>C rs2152514800
NM_130839.5(UBE3A):c.2498+3A>G rs2074491163
NM_130839.5(UBE3A):c.2499-12T>C
NM_130839.5(UBE3A):c.2499-14T>G
NM_130839.5(UBE3A):c.2499-19del
NM_130839.5(UBE3A):c.2499-19dup rs549180002
NM_130839.5(UBE3A):c.2503C>A (p.Pro835Thr)
NM_130839.5(UBE3A):c.2506A>G (p.Thr836Ala)
NM_130839.5(UBE3A):c.2508A>C (p.Thr836=) rs1028493022
NM_130839.5(UBE3A):c.2515_2531dup (p.Leu846fs) rs2152507134
NM_130839.5(UBE3A):c.2521T>G (p.Phe841Val)
NM_130839.5(UBE3A):c.2535_2551del (p.Leu846fs) rs1064792950
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu) rs587781239
NM_130839.5(UBE3A):c.2545_2560dup (p.Lys854fs)
NM_130839.5(UBE3A):c.2547C>T (p.Tyr849=)
NM_130839.5(UBE3A):c.2549C>G (p.Ser850Ter) rs587781228
NM_130839.5(UBE3A):c.2557G>C (p.Glu853Gln)
NM_130839.5(UBE3A):c.2557_2560dup (p.Lys854fs) rs587781229
NM_130839.5(UBE3A):c.2563_2566del (p.Leu855fs) rs398124440
NM_130839.5(UBE3A):c.2563_2567dup (p.Lys856fs) rs1555379800
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del) rs863225070
NM_130839.5(UBE3A):c.2565_2584dup (p.Ala862delinsValLysArgAspCysTer)
NM_130839.5(UBE3A):c.2567_2568del (p.Lys856fs) rs587781231
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.2575T>C (p.Leu859=)
NM_130839.5(UBE3A):c.2586C>T (p.Ala862=)
NM_130839.5(UBE3A):c.2591C>T (p.Thr864Met)
NM_130839.5(UBE3A):c.2592G>C (p.Thr864=)
NM_130839.5(UBE3A):c.2600_2604dup (p.Phe869fs) rs2074288628
NM_130839.5(UBE3A):c.2604A>T (p.Gly868=) rs965417906
NM_130839.5(UBE3A):c.2614C>T (p.Leu872=) rs2152506657
NM_130839.5(UBE3A):c.270C>T (p.Ser90=) rs2152848022
NM_130839.5(UBE3A):c.274G>C (p.Ala92Pro)
NM_130839.5(UBE3A):c.275C>T (p.Ala92Val) rs2152847994
NM_130839.5(UBE3A):c.278A>C (p.Tyr93Ser) rs772952625
NM_130839.5(UBE3A):c.290C>G (p.Ser97Trp) rs772110423
NM_130839.5(UBE3A):c.296G>A (p.Gly99Asp) rs943659663
NM_130839.5(UBE3A):c.301C>T (p.Pro101Ser)
NM_130839.5(UBE3A):c.303C>T (p.Pro101=) rs2152847825
NM_130839.5(UBE3A):c.307A>G (p.Asn103Asp) rs2081069977
NM_130839.5(UBE3A):c.311C>T (p.Ser104Phe)
NM_130839.5(UBE3A):c.328A>G (p.Met110Val) rs369853017
NM_130839.5(UBE3A):c.339A>G (p.Lys113=)
NM_130839.5(UBE3A):c.342C>A (p.Gly114=) rs142726511
NM_130839.5(UBE3A):c.343G>A (p.Ala115Thr) rs376815580
NM_130839.5(UBE3A):c.343G>T (p.Ala115Ser)
NM_130839.5(UBE3A):c.345T>G (p.Ala115=) rs1308187741
NM_130839.5(UBE3A):c.361+14T>C
NM_130839.5(UBE3A):c.362-10G>A
NM_130839.5(UBE3A):c.362-10G>T rs1407383738
NM_130839.5(UBE3A):c.362-11dup
NM_130839.5(UBE3A):c.362-13T>C
NM_130839.5(UBE3A):c.367A>C (p.Thr123Pro)
NM_130839.5(UBE3A):c.368C>G (p.Thr123Ser) rs2080325563
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.387G>A (p.Lys129=)
NM_130839.5(UBE3A):c.390A>G (p.Val130=)
NM_130839.5(UBE3A):c.393T>A (p.Tyr131Ter) rs2152823877
NM_130839.5(UBE3A):c.400C>A (p.Leu134Ile) rs566793027
NM_130839.5(UBE3A):c.400C>T (p.Leu134Phe) rs566793027
NM_130839.5(UBE3A):c.402T>A (p.Leu134=)
NM_130839.5(UBE3A):c.406T>C (p.Leu136=) rs1566962877
NM_130839.5(UBE3A):c.410G>A (p.Cys137Tyr) rs2080319240
NM_130839.5(UBE3A):c.422_423del (p.Glu141fs) rs587780571
NM_130839.5(UBE3A):c.425A>C (p.Asp142Ala) rs1595815771
NM_130839.5(UBE3A):c.435T>C (p.Pro145=)
NM_130839.5(UBE3A):c.443G>A (p.Arg148His) rs2080315079
NM_130839.5(UBE3A):c.444T>G (p.Arg148=) rs1860879871
NM_130839.5(UBE3A):c.454A>G (p.Arg152Gly) rs772621378
NM_130839.5(UBE3A):c.459T>C (p.Val153=)
NM_130839.5(UBE3A):c.459T>G (p.Val153=) rs1566962536
NM_130839.5(UBE3A):c.461T>C (p.Phe154Ser)
NM_130839.5(UBE3A):c.477A>G (p.Ala159=) rs28528079
NM_130839.5(UBE3A):c.494G>A (p.Arg165Gln)
NM_130839.5(UBE3A):c.558T>C (p.Asp186=) rs1595814554
NM_130839.5(UBE3A):c.570G>T (p.Lys190Asn) rs780715298
NM_130839.5(UBE3A):c.574A>G (p.Lys192Glu) rs757072130
NM_130839.5(UBE3A):c.578C>G (p.Ala193Gly) rs2080300076
NM_130839.5(UBE3A):c.580G>C (p.Ala194Pro) rs751370485
NM_130839.5(UBE3A):c.580G>T (p.Ala194Ser)
NM_130839.5(UBE3A):c.589G>A (p.Ala197Thr) rs752711811
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_130839.5(UBE3A):c.592G>T (p.Ala198Ser) rs147145506
NM_130839.5(UBE3A):c.603A>G (p.Glu201=)
NM_130839.5(UBE3A):c.610T>C (p.Ser204Pro)
NM_130839.5(UBE3A):c.613_614del (p.Glu205fs)
NM_130839.5(UBE3A):c.618A>G (p.Ala206=) rs143484751
NM_130839.5(UBE3A):c.62+14G>C
NM_130839.5(UBE3A):c.62+20G>A rs587782906
NM_130839.5(UBE3A):c.62+7G>A rs1440979314
NM_130839.5(UBE3A):c.62+9A>G rs2153049609
NM_130839.5(UBE3A):c.624C>T (p.Ser208=)
NM_130839.5(UBE3A):c.625T>C (p.Ser209Pro)
NM_130839.5(UBE3A):c.629G>A (p.Arg210Lys)
NM_130839.5(UBE3A):c.63-19_63-17del rs587782921
NM_130839.5(UBE3A):c.63-4A>G
NM_130839.5(UBE3A):c.633A>G (p.Ile211Met)
NM_130839.5(UBE3A):c.641G>T (p.Ser214Ile) rs2152822939
NM_130839.5(UBE3A):c.649G>A (p.Gly217Arg)
NM_130839.5(UBE3A):c.651A>G (p.Gly217=)
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.656A>G (p.Asn219Ser)
NM_130839.5(UBE3A):c.656_657insTTGA (p.Asn219_Asn220insTer)
NM_130839.5(UBE3A):c.680ATG[1] (p.Asp228del) rs773438461
NM_130839.5(UBE3A):c.684T>C (p.Asp228=)
NM_130839.5(UBE3A):c.696T>C (p.Asp232=) rs1057523332
NM_130839.5(UBE3A):c.699T>C (p.Ile233=)
NM_130839.5(UBE3A):c.704C>T (p.Ala235Val)
NM_130839.5(UBE3A):c.70G>A (p.Ala24Thr)
NM_130839.5(UBE3A):c.718T>C (p.Tyr240His)
NM_130839.5(UBE3A):c.721A>G (p.Thr241Ala)
NM_130839.5(UBE3A):c.730C>T (p.Leu244Phe) rs2152822674
NM_130839.5(UBE3A):c.732C>T (p.Leu244=) rs1060504406
NM_130839.5(UBE3A):c.736A>G (p.Asn246Asp)
NM_130839.5(UBE3A):c.745A>G (p.Ile249Val) rs951801729
NM_130839.5(UBE3A):c.764A>G (p.Asn255Ser)
NM_130839.5(UBE3A):c.770T>C (p.Leu257Pro) rs587780582
NM_130839.5(UBE3A):c.772G>A (p.Val258Ile)
NM_130839.5(UBE3A):c.807G>A (p.Thr269=) rs2080268979
NM_130839.5(UBE3A):c.827G>A (p.Arg276Gln)
NM_130839.5(UBE3A):c.834T>C (p.Pro278=) rs2152822349
NM_130839.5(UBE3A):c.835A>G (p.Asn279Asp) rs376828905
NM_130839.5(UBE3A):c.853A>G (p.Ile285Val) rs2080263323
NM_130839.5(UBE3A):c.854T>C (p.Ile285Thr) rs1566959617
NM_130839.5(UBE3A):c.859G>A (p.Val287Ile) rs1064794579
NM_130839.5(UBE3A):c.867G>A (p.Glu289=)
NM_130839.5(UBE3A):c.873A>C (p.Arg291Ser)
NM_130839.5(UBE3A):c.873A>G (p.Arg291=) rs1213980033
NM_130839.5(UBE3A):c.898G>T (p.Glu300Ter)
NM_130839.5(UBE3A):c.916T>A (p.Phe306Ile) rs2080257342
NM_130839.5(UBE3A):c.927G>T (p.Ala309=) rs576963061
NM_130839.5(UBE3A):c.946G>T (p.Ala316Ser)
NM_130839.5(UBE3A):c.954A>G (p.Gln318=)
NM_130839.5(UBE3A):c.959A>G (p.Lys320Arg)
NM_130839.5(UBE3A):c.963G>A (p.Leu321=)
NM_130839.5(UBE3A):c.981A>G (p.Lys327=) rs1555400511
NM_130839.5(UBE3A):c.984C>T (p.Tyr328=)
NM_130839.5(UBE3A):c.986A>T (p.Asn329Ile)
NM_130839.5(UBE3A):c.993C>A (p.Asp331Glu)

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