ClinVar Miner

List of variants reported as pathogenic for Angelman syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_130839.5(UBE3A):c.1024C>T (p.Gln342Ter) rs587784534
NM_130839.5(UBE3A):c.1150G>T (p.Glu384Ter) rs587784508
NM_130839.5(UBE3A):c.1170_1173del (p.Asn390fs) rs587784509
NM_130839.5(UBE3A):c.1407_1408del (p.Asn470fs) rs587784512
NM_130839.5(UBE3A):c.1521_1528del (p.Tyr508fs) rs587784513
NM_130839.5(UBE3A):c.1597dup (p.Ala533fs) rs587781204
NM_130839.5(UBE3A):c.1627G>T (p.Glu543Ter) rs587784514
NM_130839.5(UBE3A):c.1659T>A (p.Tyr553Ter) rs587784515
NM_130839.5(UBE3A):c.1786_1790del (p.Phe596fs) rs587784519
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.1834_1837del (p.Ile612fs) rs587784520
NM_130839.5(UBE3A):c.2238dup (p.Phe747fs) rs797046085
NM_130839.5(UBE3A):c.2305G>T (p.Glu769Ter) rs587781220
NM_130839.5(UBE3A):c.2364G>A (p.Trp788Ter) rs111033595
NM_130839.5(UBE3A):c.2397_2400dup (p.Leu801fs) rs797046086
NM_130839.5(UBE3A):c.2463GAT[1] (p.Met822del) rs587781238
NM_130839.5(UBE3A):c.2523_2566dup (p.Lys856fs) rs587781230
NM_130839.5(UBE3A):c.2545T>C (p.Tyr849His) rs587784526
NM_130839.5(UBE3A):c.2562dup (p.Leu855fs) rs797046087
NM_130839.5(UBE3A):c.2563_2567dup (p.Lys856fs) rs1555379800
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.2607dup (p.Gly870fs) rs797046088
NM_130839.5(UBE3A):c.2616_*6del (p.Ter873GlnextTer?) rs587781232
NM_130839.5(UBE3A):c.372_375del (p.Thr123_Tyr124insTer) rs587780570
NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys) rs587781241
NM_130839.5(UBE3A):c.377_381del (p.Thr126fs) rs587784529
NM_130839.5(UBE3A):c.440del (p.Ile147fs) rs587784530
NM_130839.5(UBE3A):c.565_571del (p.Glu189fs) rs587784532
NM_130839.5(UBE3A):c.62+1_62+2insAA rs797046084
NM_130839.5(UBE3A):c.889G>T (p.Glu297Ter) rs587784533

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