ClinVar Miner

List of variants reported as uncertain significance for Angelman syndrome by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
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.1052A>G (p.Asn351Ser) rs747932207 0.00005
NM_130839.5(UBE3A):c.1153G>A (p.Val385Met) rs763388142 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.1169A>G (p.Asn390Ser) rs147446244 0.00004
NM_130839.5(UBE3A):c.1289G>T (p.Gly430Val) rs1260300451 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.295G>T (p.Gly99Cys) rs774533700 0.00003
NM_130839.5(UBE3A):c.305A>G (p.Asn102Ser) rs201577750 0.00003
NM_130839.5(UBE3A):c.589G>T (p.Ala197Ser) rs752711811 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.2114A>G (p.Glu705Gly) rs764195093 0.00002
NM_130839.5(UBE3A):c.2135A>G (p.Asn712Ser) rs916720140 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.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.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.1754-3T>C rs1398256620 0.00001
NM_130839.5(UBE3A):c.175C>T (p.Arg59Cys) rs587783098 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.2104A>G (p.Ile702Val) rs751477028 0.00001
NM_130839.5(UBE3A):c.2131G>A (p.Val711Ile) rs587784524 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.2402T>A (p.Leu801His) rs1057520393 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.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+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.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.671T>C (p.Leu224Ser) rs587782922 0.00001
NM_130839.5(UBE3A):c.790G>A (p.Val264Met) rs745363984 0.00001
NM_130839.5(UBE3A):c.826C>A (p.Arg276=) rs997044541 0.00001
NC_000015.10:g.(?_25339117)_(25360547_?)dup
NC_000015.9:g.(?_25582396)_(25650653_?)dup
NC_000015.9:g.(?_25584264)_(25620930_?)dup
NC_000015.9:g.(?_25584284)_(25585395_?)dup
NC_000015.9:g.(?_25584284)_(25620930_?)dup
NM_130839.5(UBE3A):c.1000C>G (p.Arg334Gly)
NM_130839.5(UBE3A):c.1001G>A (p.Arg334Gln)
NM_130839.5(UBE3A):c.1007T>C (p.Met336Thr) rs863225071
NM_130839.5(UBE3A):c.1060A>G (p.Asn354Asp) rs1595808009
NM_130839.5(UBE3A):c.1122G>A (p.Met374Ile)
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.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.1236A>C (p.Glu412Asp)
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.131A>C (p.Glu44Ala) rs2081089937
NM_130839.5(UBE3A):c.1325C>T (p.Pro442Leu) rs2152820660
NM_130839.5(UBE3A):c.1344T>A (p.Asn448Lys)
NM_130839.5(UBE3A):c.1359G>C (p.Glu453Asp)
NM_130839.5(UBE3A):c.1363C>G (p.Leu455Val)
NM_130839.5(UBE3A):c.1388T>C (p.Phe463Ser)
NM_130839.5(UBE3A):c.1394A>G (p.Lys465Arg)
NM_130839.5(UBE3A):c.1435T>A (p.Phe479Ile)
NM_130839.5(UBE3A):c.1439T>C (p.Ile480Thr)
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.1583A>G (p.His528Arg)
NM_130839.5(UBE3A):c.1608+3A>T
NM_130839.5(UBE3A):c.161G>A (p.Cys54Tyr) rs1301123423
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.171T>A (p.Phe57Leu) rs2081083253
NM_130839.5(UBE3A):c.172C>T (p.Leu58Phe) rs2081082912
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.1858A>G (p.Ile620Val) rs2152700776
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.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.1997A>C (p.Glu666Ala)
NM_130839.5(UBE3A):c.2003A>G (p.Asn668Ser) rs557434570
NM_130839.5(UBE3A):c.2013T>C (p.Asp671=)
NM_130839.5(UBE3A):c.2030T>C (p.Phe677Ser) rs1566894864
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+3A>G
NM_130839.5(UBE3A):c.2124+6_2124+9del rs756899000
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.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.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.2279G>A (p.Arg760Gln) rs761011538
NM_130839.5(UBE3A):c.2286_2291dup (p.Leu762_Asp763dup) rs2152682847
NM_130839.5(UBE3A):c.229G>A (p.Ala77Thr)
NM_130839.5(UBE3A):c.2323G>A (p.Gly775Ser) rs1566887391
NM_130839.5(UBE3A):c.232A>G (p.Lys78Glu)
NM_130839.5(UBE3A):c.2345T>C (p.Val782Ala)
NM_130839.5(UBE3A):c.2354+6G>A rs771697024
NM_130839.5(UBE3A):c.2355-3T>C rs2074512326
NM_130839.5(UBE3A):c.2391A>T (p.Glu797Asp)
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.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+3A>G rs2074491163
NM_130839.5(UBE3A):c.2503C>A (p.Pro835Thr)
NM_130839.5(UBE3A):c.2506A>G (p.Thr836Ala)
NM_130839.5(UBE3A):c.2521T>G (p.Phe841Val)
NM_130839.5(UBE3A):c.2557G>C (p.Glu853Gln)
NM_130839.5(UBE3A):c.2591C>T (p.Thr864Met)
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.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.343G>A (p.Ala115Thr) rs376815580
NM_130839.5(UBE3A):c.343G>T (p.Ala115Ser)
NM_130839.5(UBE3A):c.367A>C (p.Thr123Pro)
NM_130839.5(UBE3A):c.368C>G (p.Thr123Ser) rs2080325563
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.410G>A (p.Cys137Tyr) rs2080319240
NM_130839.5(UBE3A):c.425A>C (p.Asp142Ala) rs1595815771
NM_130839.5(UBE3A):c.443G>A (p.Arg148His) rs2080315079
NM_130839.5(UBE3A):c.454A>G (p.Arg152Gly) rs772621378
NM_130839.5(UBE3A):c.461T>C (p.Phe154Ser)
NM_130839.5(UBE3A):c.494G>A (p.Arg165Gln)
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>T (p.Ala198Ser) rs147145506
NM_130839.5(UBE3A):c.610T>C (p.Ser204Pro)
NM_130839.5(UBE3A):c.625T>C (p.Ser209Pro)
NM_130839.5(UBE3A):c.629G>A (p.Arg210Lys)
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.654CAA[1] (p.Asn220del) rs763097042
NM_130839.5(UBE3A):c.656A>G (p.Asn219Ser)
NM_130839.5(UBE3A):c.680ATG[1] (p.Asp228del) rs773438461
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.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.772G>A (p.Val258Ile)
NM_130839.5(UBE3A):c.827G>A (p.Arg276Gln)
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.859G>A (p.Val287Ile) rs1064794579
NM_130839.5(UBE3A):c.873A>C (p.Arg291Ser)
NM_130839.5(UBE3A):c.916T>A (p.Phe306Ile) rs2080257342
NM_130839.5(UBE3A):c.946G>T (p.Ala316Ser)
NM_130839.5(UBE3A):c.959A>G (p.Lys320Arg)
NM_130839.5(UBE3A):c.986A>T (p.Asn329Ile)
NM_130839.5(UBE3A):c.993C>A (p.Asp331Glu)

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