ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198)
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182)
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)
GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182)
GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141)
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

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