ClinVar Miner

List of variants reported as likely pathogenic for Angelman syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NC_000015.10:g.(?_24566038)_(25781223_?)dup
NM_130839.5(UBE3A):c.1007T>C (p.Met336Thr) rs863225071
NM_130839.5(UBE3A):c.1024C>T (p.Gln342Ter) rs587784534
NM_130839.5(UBE3A):c.119G>A (p.Gly40Asp)
NM_130839.5(UBE3A):c.1321dup (p.Ile441fs)
NM_130839.5(UBE3A):c.1364T>C (p.Leu455Pro) rs587781242
NM_130839.5(UBE3A):c.1405_1408del (p.Glu469fs) rs587784512
NM_130839.5(UBE3A):c.1490G>C (p.Arg497Pro) rs587781243
NM_130839.5(UBE3A):c.1577G>A (p.Arg526His) rs1064795012
NM_130839.5(UBE3A):c.1594G>T (p.Asp532Tyr) rs2152819923
NM_130839.5(UBE3A):c.1682G>A (p.Gly561Glu) rs2077884610
NM_130839.5(UBE3A):c.1694G>A (p.Gly565Glu) rs587784516
NM_130839.5(UBE3A):c.1696G>A (p.Gly566Ser) rs1555393242
NM_130839.5(UBE3A):c.1700T>A (p.Val567Asp)
NM_130839.5(UBE3A):c.1704del (p.Glu570fs)
NM_130839.5(UBE3A):c.1742A>G (p.Asn581Ser) rs587784517
NM_130839.5(UBE3A):c.1748A>G (p.Asp583Gly) rs587784518
NM_130839.5(UBE3A):c.1757T>A (p.Met586Lys) rs587781244
NM_130839.5(UBE3A):c.1782del (p.Lys594fs) rs1555391286
NM_130839.5(UBE3A):c.1791_1801delinsAAGATTCTTTTGAAA (p.Trp597_Ser601delinsTer)
NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del) rs587781234
NM_130839.5(UBE3A):c.1820del (p.Gly607fs)
NM_130839.5(UBE3A):c.1823A>G (p.Gln608Arg) rs587782919
NM_130839.5(UBE3A):c.1864A>G (p.Asn622Asp) rs2077275624
NM_130839.5(UBE3A):c.1959+1G>A
NM_130839.5(UBE3A):c.1976T>G (p.Leu659Ter) rs1595591164
NM_130839.5(UBE3A):c.2033A>G (p.Gln678Arg) rs2077166492
NM_130839.5(UBE3A):c.211G>T (p.Glu71Ter) rs1207660411
NM_130839.5(UBE3A):c.2124+1G>T rs2152693602
NM_130839.5(UBE3A):c.2125-1G>A rs1064795001
NM_130839.5(UBE3A):c.2137_2140dup (p.Tyr714fs)
NM_130839.5(UBE3A):c.2198G>T (p.Gly733Val) rs1595572384
NM_130839.5(UBE3A):c.2265_2267dup (p.Ile756dup) rs2152683847
NM_130839.5(UBE3A):c.2273G>A (p.Gly758Glu)
NM_130839.5(UBE3A):c.2308del (p.Thr770fs)
NM_130839.5(UBE3A):c.234A>T (p.Lys78Asn)
NM_130839.5(UBE3A):c.238T>C (p.Cys80Arg) rs2152848080
NM_130839.5(UBE3A):c.2406_2414del (p.Leu803_Phe805del) rs1555380809
NM_130839.5(UBE3A):c.2471T>A (p.Ile824Lys) rs2152514867
NM_130839.5(UBE3A):c.2508_2510dup (p.Ser837_His838insSer)
NM_130839.5(UBE3A):c.2517_2553dup (p.Lys852delinsLeuLeuTer) rs1595362860
NM_130839.5(UBE3A):c.2519G>A (p.Cys840Tyr)
NM_130839.5(UBE3A):c.2535_2538del (p.Leu845fs) rs863224940
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu) rs587781239
NM_130839.5(UBE3A):c.2547C>G (p.Tyr849Ter) rs1445563777
NM_130839.5(UBE3A):c.2563C>T (p.Leu855Phe) rs587783097
NM_130839.5(UBE3A):c.2563_2566dup (p.Lys856delinsThrTer) rs398124440
NM_130839.5(UBE3A):c.2600_2604dup (p.Phe869fs) rs2074288628
NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp) rs587784528
NM_130839.5(UBE3A):c.278_282del (p.Ala92_Tyr93insTer)
NM_130839.5(UBE3A):c.303dup (p.Asn102fs)
NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys) rs587781241
NM_130839.5(UBE3A):c.448_459del (p.Ile150_Val153del) rs587784531
NM_130839.5(UBE3A):c.449T>C (p.Ile150Thr) rs111033597
NM_130839.5(UBE3A):c.488dup (p.Ser163fs)
NM_130839.5(UBE3A):c.770T>A (p.Leu257His) rs587780582
NM_130839.5(UBE3A):c.854T>C (p.Ile285Thr) rs1566959617

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