ClinVar Miner

List of variants reported as pathogenic for Angelman syndrome by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182)
NC_000015.9:g.(?_23730704)_(28530182_?)del
NM_130839.5(UBE3A):c.1021C>T (p.Gln341Ter) rs587781191
NM_130839.5(UBE3A):c.1032_1038del (p.Thr345fs) rs587781192
NM_130839.5(UBE3A):c.1127dup (p.Tyr376Ter) rs587781193
NM_130839.5(UBE3A):c.1136dup (p.Asn379fs) rs587781194
NM_130839.5(UBE3A):c.1174G>T (p.Glu392Ter) rs587781195
NM_130839.5(UBE3A):c.1261C>T (p.Arg421Ter) rs587781196
NM_130839.5(UBE3A):c.1330G>T (p.Glu444Ter) rs587781197
NM_130839.5(UBE3A):c.1345G>T (p.Glu449Ter) rs587781198
NM_130839.5(UBE3A):c.1402del (p.Thr468fs) rs2080191422
NM_130839.5(UBE3A):c.1415dup (p.Ser473fs) rs587781199
NM_130839.5(UBE3A):c.1421_1422del (p.Phe474fs) rs587781200
NM_130839.5(UBE3A):c.1425_1439del (p.Met475_Phe479del) rs587780585
NM_130839.5(UBE3A):c.1431T>A (p.Cys477Ter) rs587781201
NM_130839.5(UBE3A):c.1433C>T (p.Pro478Leu) rs587780584
NM_130839.5(UBE3A):c.1447del (p.Ala483fs) rs587781202
NM_130839.5(UBE3A):c.1565_1566del (p.Leu522fs) rs587781203
NM_130839.5(UBE3A):c.1597dup (p.Ala533fs) rs587781204
NM_130839.5(UBE3A):c.159del (p.Cys54fs) rs587780565
NM_130839.5(UBE3A):c.1614_1624del (p.Glu538fs)
NM_130839.5(UBE3A):c.1631dup (p.Asn544fs) rs587781205
NM_130839.5(UBE3A):c.1668dup (p.Glu557Ter) rs587781206
NM_130839.5(UBE3A):c.1693G>A (p.Gly565Arg) rs587781233
NM_130839.5(UBE3A):c.1699_1702dup (p.Ser568fs) rs587781207
NM_130839.5(UBE3A):c.1754-2A>G rs587780579
NM_130839.5(UBE3A):c.1790G>A (p.Trp597Ter) rs587781208
NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del) rs587781234
NM_130839.5(UBE3A):c.1810G>C (p.Glu604Gln) rs587781235
NM_130839.5(UBE3A):c.1874_1884del (p.Ile625fs) rs587781209
NM_130839.5(UBE3A):c.1972_1973del (p.Ser658fs) rs587781210
NM_130839.5(UBE3A):c.2016_2023del (p.Met673fs) rs587781211
NM_130839.5(UBE3A):c.2017dup (p.Met673fs) rs587781212
NM_130839.5(UBE3A):c.2027C>T (p.Thr676Ile) rs587781236
NM_130839.5(UBE3A):c.2032C>T (p.Gln678Ter) rs587781213
NM_130839.5(UBE3A):c.2032del (p.Gln678fs) rs587781214
NM_130839.5(UBE3A):c.2125-2A>C rs587780580
NM_130839.5(UBE3A):c.2129T>G (p.Phe710Cys) rs587781237
NM_130839.5(UBE3A):c.2162_2163insTATT (p.Lys721fs) rs587781215
NM_130839.5(UBE3A):c.2230_2234dup (p.Tyr745Ter) rs587781216
NM_130839.5(UBE3A):c.2237T>A (p.Leu746Ter) rs587781217
NM_130839.5(UBE3A):c.2246del (p.Pro749fs) rs587781218
NM_130839.5(UBE3A):c.2293C>T (p.Gln765Ter) rs587781219
NM_130839.5(UBE3A):c.2305G>T (p.Glu769Ter) rs587781220
NM_130839.5(UBE3A):c.2305del (p.Glu769fs) rs587781221
NM_130839.5(UBE3A):c.2307_2311dup (p.Thr771fs) rs587781222
NM_130839.5(UBE3A):c.2349dup (p.Ile784fs) rs587781223
NM_130839.5(UBE3A):c.2404_2405del (p.Phe802fs) rs587781224
NM_130839.5(UBE3A):c.2430_2433del (p.Asp810fs) rs587781225
NM_130839.5(UBE3A):c.2463GAT[1] (p.Met822del) rs587781238
NM_130839.5(UBE3A):c.2523_2581dup (p.Lys861delinsIleMetCysPheTyrPheArgAsnThrGlnAlaLysLysAsnLeuLysArgAspCysTer) rs1555379745
NM_130839.5(UBE3A):c.2534T>A (p.Leu845Ter) rs587781226
NM_130839.5(UBE3A):c.2538del (p.Pro847fs) rs587781227
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu) rs587781239
NM_130839.5(UBE3A):c.2547_2567dup (p.Leu855_Lys856insAsnSerSerLysGluLysLeu) rs587781240
NM_130839.5(UBE3A):c.2547_2614del (p.Ser850fs) rs1555379684
NM_130839.5(UBE3A):c.2549C>G (p.Ser850Ter) rs587781228
NM_130839.5(UBE3A):c.2557_2560dup (p.Lys854fs) rs587781229
NM_130839.5(UBE3A):c.2563_2566dup (p.Lys856delinsThrTer) rs398124440
NM_130839.5(UBE3A):c.2567_2568del (p.Lys856fs) rs587781231
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.259_262dup (p.Gly88fs) rs587780566
NM_130839.5(UBE3A):c.2616_*6del (p.Ter873GlnextTer?) rs587781232
NM_130839.5(UBE3A):c.2618A>T (p.Ter873Leu) rs76794400
NM_130839.5(UBE3A):c.323_324del (p.Ile108fs) rs587780567
NM_130839.5(UBE3A):c.335dup (p.Lys113fs) rs587780568
NM_130839.5(UBE3A):c.337_340del (p.Lys113fs) rs587780569
NM_130839.5(UBE3A):c.362-2A>T rs587780578
NM_130839.5(UBE3A):c.372_375del (p.Thr123_Tyr124insTer) rs587780570
NM_130839.5(UBE3A):c.422_423del (p.Glu141fs) rs587780571
NM_130839.5(UBE3A):c.463dup (p.Ser155fs) rs587780572
NM_130839.5(UBE3A):c.607del (p.Asp203fs) rs587780573
NM_130839.5(UBE3A):c.62T>C (p.Met21Thr) rs587780577
NM_130839.5(UBE3A):c.640dup (p.Ser214fs) rs587780574
NM_130839.5(UBE3A):c.695A>T (p.Asp232Val) rs587780581
NM_130839.5(UBE3A):c.748G>T (p.Glu250Ter) rs587780575
NM_130839.5(UBE3A):c.770T>C (p.Leu257Pro) rs587780582
NM_130839.5(UBE3A):c.777T>A (p.Tyr259Ter) rs587780576
NM_130839.5(UBE3A):c.810T>A (p.Tyr270Ter) rs587781190
NM_130839.5(UBE3A):c.848T>G (p.Leu283Trp) rs587780583

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.