ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as pathogenic for not provided

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_130838.2(UBE3A):c.[255_259del;269del]
NM_130839.5(UBE3A):c.1066C>T (p.Arg356Ter) rs2080238010
NM_130839.5(UBE3A):c.1187_1188insAG (p.Pro397fs)
NM_130839.5(UBE3A):c.1207G>T (p.Glu403Ter) rs1555400239
NM_130839.5(UBE3A):c.1219C>T (p.Gln407Ter)
NM_130839.5(UBE3A):c.1237G>T (p.Glu413Ter) rs886043612
NM_130839.5(UBE3A):c.1241_1247del (p.Arg414fs) rs886041283
NM_130839.5(UBE3A):c.1244_1253dup (p.Gly419fs) rs886041603
NM_130839.5(UBE3A):c.1261C>T (p.Arg421Ter) rs587781196
NM_130839.5(UBE3A):c.1407_1408del (p.Asn470fs) rs587784512
NM_130839.5(UBE3A):c.1472_1476del (p.Leu490_Tyr491insTer) rs863225068
NM_130839.5(UBE3A):c.1504C>T (p.Arg502Ter) rs1555399937
NM_130839.5(UBE3A):c.153_154dup (p.Ala52fs) rs886041451
NM_130839.5(UBE3A):c.1541dup (p.Gln515fs) rs1064796224
NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys) rs1064793307
NM_130839.5(UBE3A):c.1607_1608delinsTGCTAGACAA (p.Arg536fs) rs398124438
NM_130839.5(UBE3A):c.1608+1G>A rs1555399890
NM_130839.5(UBE3A):c.1609-8A>G rs2077891986
NM_130839.5(UBE3A):c.1708_1710del (p.Glu570del) rs1064796545
NM_130839.5(UBE3A):c.1754-2A>C rs587780579
NM_130839.5(UBE3A):c.1789dup (p.Trp597fs) rs1595601899
NM_130839.5(UBE3A):c.1822_1823del (p.Gln608fs) rs794727738
NM_130839.5(UBE3A):c.1834_1837del (p.Ile612fs) rs587784520
NM_130839.5(UBE3A):c.1953_1954del (p.His652fs) rs886039516
NM_130839.5(UBE3A):c.1969C>T (p.Gln657Ter) rs2077173386
NM_130839.5(UBE3A):c.2032C>T (p.Gln678Ter) rs587781213
NM_130839.5(UBE3A):c.2049dup (p.Leu684fs)
NM_130839.5(UBE3A):c.2430_2433del (p.Asp810fs) rs587781225
NM_130839.5(UBE3A):c.2433_2434del (p.Arg811fs) rs886039476
NM_130839.5(UBE3A):c.2469dup (p.Ile824fs) rs886041289
NM_130839.5(UBE3A):c.2535_2544dup (p.Tyr849fs) rs2074302214
NM_130839.5(UBE3A):c.2563_2566del (p.Leu855fs) rs398124440
NM_130839.5(UBE3A):c.2563_2566dup (p.Lys856delinsThrTer) rs398124440
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del) rs863225070
NM_130839.5(UBE3A):c.2567_2568dup (p.Glu857fs) rs587781231
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.2567_2570dup (p.Leu859fs) rs587784527
NM_130839.5(UBE3A):c.2571_2574del (p.Glu857fs) rs886041252
NM_130839.5(UBE3A):c.372_375del (p.Thr123_Tyr124insTer) rs587780570
NM_130839.5(UBE3A):c.377_381del (p.Thr126fs) rs587784529
NM_130839.5(UBE3A):c.393del (p.Val130_Tyr131insTer) rs1595816114
NM_130839.5(UBE3A):c.463dup (p.Ser155fs) rs587780572
NM_130839.5(UBE3A):c.517del (p.Glu173fs) rs1131691801
NM_130839.5(UBE3A):c.535C>T (p.Gln179Ter) rs2080305309
NM_130839.5(UBE3A):c.546_547insCT (p.Glu183fs) rs786200996
NM_130839.5(UBE3A):c.626C>G (p.Ser209Ter) rs1566961418
NM_130839.5(UBE3A):c.67C>T (p.Arg23Ter) rs1490279918
NM_130839.5(UBE3A):c.720C>A (p.Tyr240Ter) rs755078197
NM_130839.5(UBE3A):c.827del (p.Arg276fs) rs886039448

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