ClinVar Miner

List of variants reported as likely benign for Angelman syndrome

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ClinVar version:
Total variants: 199
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HGVS dbSNP gnomAD frequency
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.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.1179T>C (p.Asp393=) rs143000400 0.00005
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.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.2247A>G (p.Pro749=) rs753988917 0.00003
NM_130839.5(UBE3A):c.291G>A (p.Ser97=) rs1411368065 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.87A>G (p.Leu29=) rs771985048 0.00003
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.222G>A (p.Lys74=) rs759225128 0.00002
NM_130839.5(UBE3A):c.2499-10C>T rs776735747 0.00002
NM_130839.5(UBE3A):c.1134A>G (p.Ala378=) rs1055822466 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.1609-10C>T rs1490784858 0.00001
NM_130839.5(UBE3A):c.1754-4A>G rs780429591 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.1959+15A>G rs1444735197 0.00001
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=) rs371296838 0.00001
NM_130839.5(UBE3A):c.20+465G>A rs765727905 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.2163A>G (p.Lys721=) rs992268686 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.2415T>C (p.Phe805=) rs587780991 0.00001
NM_130839.5(UBE3A):c.2499-6A>G rs925559099 0.00001
NM_130839.5(UBE3A):c.361+16T>A rs1285482314 0.00001
NM_130839.5(UBE3A):c.507A>G (p.Gln169=) rs1555401033 0.00001
NM_130839.5(UBE3A):c.660T>C (p.Asn220=) rs201667751 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.819A>G (p.Val273=) rs370294710 0.00001
NM_130839.5(UBE3A):c.81G>A (p.Lys27=) rs937023999 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
NM_130839.5(UBE3A):c.1002G>A (p.Arg334=) rs1595808837
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.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.1161A>G (p.Thr387=)
NM_130839.5(UBE3A):c.1161A>T (p.Thr387=) rs753078220
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.1248C>T (p.Asn416=) rs2152820982
NM_130839.5(UBE3A):c.1335G>A (p.Glu445=) rs1555400103
NM_130839.5(UBE3A):c.1347A>G (p.Glu449=) rs2152820597
NM_130839.5(UBE3A):c.1383T>C (p.Tyr461=)
NM_130839.5(UBE3A):c.1398A>G (p.Val466=)
NM_130839.5(UBE3A):c.1401A>G (p.Glu467=)
NM_130839.5(UBE3A):c.1428A>G (p.Thr476=) rs138049263
NM_130839.5(UBE3A):c.1461T>C (p.Asn487=)
NM_130839.5(UBE3A):c.1497C>T (p.Tyr499=)
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.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.1609-11T>C rs1555393315
NM_130839.5(UBE3A):c.1609-20dup rs779671805
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=) rs1057523671
NM_130839.5(UBE3A):c.1710A>G (p.Glu570=)
NM_130839.5(UBE3A):c.1719G>A (p.Gln573=) rs1303052197
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.1800A>G (p.Pro600=) rs754664908
NM_130839.5(UBE3A):c.1830T>C (p.Thr610=) rs2152700872
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.1914A>G (p.Leu638=)
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.2001G>A (p.Gly667=)
NM_130839.5(UBE3A):c.2016C>T (p.Asp672=)
NM_130839.5(UBE3A):c.2055T>C (p.Phe685=)
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+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.2169A>G (p.Val723=)
NM_130839.5(UBE3A):c.2205T>C (p.His735=)
NM_130839.5(UBE3A):c.2268A>C (p.Ile756=)
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.2295A>G (p.Gln765=)
NM_130839.5(UBE3A):c.2301A>G (p.Leu767=)
NM_130839.5(UBE3A):c.2313A>G (p.Thr771=) rs2152682737
NM_130839.5(UBE3A):c.2328C>A (p.Gly776=)
NM_130839.5(UBE3A):c.2343T>C (p.Ser781=)
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+7T>A
NM_130839.5(UBE3A):c.2388T>C (p.Asp796=)
NM_130839.5(UBE3A):c.2421G>A (p.Thr807=) rs1239525577
NM_130839.5(UBE3A):c.2430C>T (p.Asp810=) rs1566825584
NM_130839.5(UBE3A):c.2442G>A (p.Val814=) rs1595375310
NM_130839.5(UBE3A):c.2498+19G>C
NM_130839.5(UBE3A):c.2499-12T>C
NM_130839.5(UBE3A):c.2499-14T>G
NM_130839.5(UBE3A):c.2508A>C (p.Thr836=) rs1028493022
NM_130839.5(UBE3A):c.2547C>T (p.Tyr849=)
NM_130839.5(UBE3A):c.2575T>C (p.Leu859=)
NM_130839.5(UBE3A):c.2586C>T (p.Ala862=)
NM_130839.5(UBE3A):c.2592G>C (p.Thr864=)
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.303C>T (p.Pro101=) rs2152847825
NM_130839.5(UBE3A):c.339A>G (p.Lys113=)
NM_130839.5(UBE3A):c.342C>A (p.Gly114=) rs142726511
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.387G>A (p.Lys129=)
NM_130839.5(UBE3A):c.390A>G (p.Val130=)
NM_130839.5(UBE3A):c.402T>A (p.Leu134=)
NM_130839.5(UBE3A):c.406T>C (p.Leu136=) rs1566962877
NM_130839.5(UBE3A):c.435T>C (p.Pro145=)
NM_130839.5(UBE3A):c.444T>G (p.Arg148=) rs1860879871
NM_130839.5(UBE3A):c.459T>C (p.Val153=)
NM_130839.5(UBE3A):c.459T>G (p.Val153=) rs1566962536
NM_130839.5(UBE3A):c.477A>G (p.Ala159=) rs28528079
NM_130839.5(UBE3A):c.558T>C (p.Asp186=) rs1595814554
NM_130839.5(UBE3A):c.603A>G (p.Glu201=)
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.63-19_63-17del rs587782921
NM_130839.5(UBE3A):c.63-4A>G
NM_130839.5(UBE3A):c.651A>G (p.Gly217=)
NM_130839.5(UBE3A):c.654C>T (p.Asp218=) rs1057523244
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.732C>T (p.Leu244=) rs1060504406
NM_130839.5(UBE3A):c.807G>A (p.Thr269=) rs2080268979
NM_130839.5(UBE3A):c.834T>C (p.Pro278=) rs2152822349
NM_130839.5(UBE3A):c.867G>A (p.Glu289=)
NM_130839.5(UBE3A):c.873A>G (p.Arg291=) rs1213980033
NM_130839.5(UBE3A):c.927G>T (p.Ala309=) rs576963061
NM_130839.5(UBE3A):c.954A>G (p.Gln318=)
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=)

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