ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported by Genetic Services Laboratory, University of Chicago

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Total variants: 75
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HGVS dbSNP
NM_000462.5(UBE3A):c.1278C>T (p.Asp426=) rs149506027
NM_000462.5(UBE3A):c.1776C>T (p.Tyr592=) rs139082033
NM_000462.5(UBE3A):c.1811_1813CTT[1] (p.Ser605del) rs587781234
NM_000462.5(UBE3A):c.2472_2474GAT[1] (p.Met825del) rs587781238
NM_000462.5(UBE3A):c.2627A>G (p.Ter876=) rs76794400
NM_130838.3(UBE3A):c.1090G>T (p.Glu364Ter) rs587784508
NM_130838.3(UBE3A):c.1109A>G (p.Asn370Ser) rs147446244
NM_130838.3(UBE3A):c.1110_1113del (p.Asn370fs) rs587784509
NM_130838.3(UBE3A):c.1116A>T (p.Glu372Asp) rs587784510
NM_130838.3(UBE3A):c.1119T>C (p.Asp373=) rs143000400
NM_130838.3(UBE3A):c.1125A>T (p.Glu375Asp) rs114056442
NM_130838.3(UBE3A):c.1132A>C (p.Ile378Leu) rs200380619
NM_130838.3(UBE3A):c.116G>A (p.Arg39His) rs587784511
NM_130838.3(UBE3A):c.1212C>T (p.Pro404=) rs1057520392
NM_130838.3(UBE3A):c.1344A>G (p.Thr448=) rs150331504
NM_130838.3(UBE3A):c.1345_1346GA[1] (p.Asn450fs) rs587784512
NM_130838.3(UBE3A):c.1461_1468del (p.Tyr488fs) rs587784513
NM_130838.3(UBE3A):c.1537dup (p.Ala513fs) rs587781204
NM_130838.3(UBE3A):c.1539A>G (p.Ala513=) rs1447040234
NM_130838.3(UBE3A):c.1560C>T (p.Ile520=) rs1057523671
NM_130838.3(UBE3A):c.1567G>T (p.Glu523Ter) rs587784514
NM_130838.3(UBE3A):c.1599T>A (p.Tyr533Ter) rs587784515
NM_130838.3(UBE3A):c.1634G>A (p.Gly545Glu) rs587784516
NM_130838.3(UBE3A):c.1682A>G (p.Asn561Ser) rs587784517
NM_130838.3(UBE3A):c.1688A>G (p.Asp563Gly) rs587784518
NM_130838.3(UBE3A):c.1693+12A>G rs368720379
NM_130838.3(UBE3A):c.1694-4A>G rs780429591
NM_130838.3(UBE3A):c.1713A>G (p.Glu571=) rs34670662
NM_130838.3(UBE3A):c.1726_1730del (p.Phe576fs) rs587784519
NM_130838.3(UBE3A):c.1730G>A (p.Trp577Ter) rs587781208
NM_130838.3(UBE3A):c.1763A>G (p.Gln588Arg) rs587782919
NM_130838.3(UBE3A):c.1774_1777del (p.Ile592fs) rs587784520
NM_130838.3(UBE3A):c.1805A>G (p.Asn602Ser) rs587784521
NM_130838.3(UBE3A):c.1821T>C (p.Asp607=) rs587784522
NM_130838.3(UBE3A):c.1877G>C (p.Arg626Pro) rs374601913
NM_130838.3(UBE3A):c.1905A>G (p.Leu635=) rs371296838
NM_130838.3(UBE3A):c.2+1_2+2insAA rs797046084
NM_130838.3(UBE3A):c.2026A>G (p.Asn676Asp) rs587784523
NM_130838.3(UBE3A):c.2036A>C (p.Lys679Thr) rs202161423
NM_130838.3(UBE3A):c.2064+9T>C rs79328837
NM_130838.3(UBE3A):c.2071G>A (p.Val691Ile) rs587784524
NM_130838.3(UBE3A):c.2178dup (p.Phe727fs) rs797046085
NM_130838.3(UBE3A):c.2220G>C (p.Arg740=) rs587784525
NM_130838.3(UBE3A):c.2245G>T (p.Glu749Ter) rs587781220
NM_130838.3(UBE3A):c.2284G>A (p.Val762Ile) rs587782910
NM_130838.3(UBE3A):c.2304G>A (p.Trp768Ter) rs111033595
NM_130838.3(UBE3A):c.2337_2340dup (p.Leu781fs) rs797046086
NM_130838.3(UBE3A):c.2463_2506dup (p.Lys836fs) rs587781230
NM_130838.3(UBE3A):c.2485T>C (p.Tyr829His) rs587784526
NM_130838.3(UBE3A):c.2502dup (p.Leu835fs) rs797046087
NM_130838.3(UBE3A):c.2503C>T (p.Leu835Phe) rs587783097
NM_130838.3(UBE3A):c.2503_2507dup (p.Lys836fs) rs1555379800
NM_130838.3(UBE3A):c.2507_2510del (p.Lys836fs) rs587784527
NM_130838.3(UBE3A):c.2547dup (p.Gly850fs) rs797046088
NM_130838.3(UBE3A):c.2549G>A (p.Gly850Asp) rs587784528
NM_130838.3(UBE3A):c.2556_*6del (p.Ter853GlnextTer?) rs587781232
NM_130838.3(UBE3A):c.268A>G (p.Met90Val) rs369853017
NM_130838.3(UBE3A):c.308_311CTTA[1] (p.Thr103_Tyr104insTer) rs587780570
NM_130838.3(UBE3A):c.313T>C (p.Leu105=) rs61734190
NM_130838.3(UBE3A):c.317C>A (p.Thr106Lys) rs587781241
NM_130838.3(UBE3A):c.317_321del (p.Thr106fs) rs587784529
NM_130838.3(UBE3A):c.380del (p.Ile127fs) rs587784530
NM_130838.3(UBE3A):c.388_399del (p.Ile130_Val133del) rs587784531
NM_130838.3(UBE3A):c.398T>G (p.Val133Gly) rs587782915
NM_130838.3(UBE3A):c.417A>T (p.Ala139=) rs28528079
NM_130838.3(UBE3A):c.505_511del (p.Glu169fs) rs587784532
NM_130838.3(UBE3A):c.532G>A (p.Ala178Thr) rs147145506
NM_130838.3(UBE3A):c.599A>C (p.Asn200Thr) rs528422241
NM_130838.3(UBE3A):c.611T>C (p.Leu204Ser) rs587782922
NM_130838.3(UBE3A):c.755A>G (p.Asn252Ser) rs139928148
NM_130838.3(UBE3A):c.829G>T (p.Glu277Ter) rs587784533
NM_130838.3(UBE3A):c.840_852delinsC (p.Glu280_Pro284delinsAsp) rs797046089
NM_130838.3(UBE3A):c.876G>A (p.Lys292=) rs867585000
NM_130838.3(UBE3A):c.949A>T (p.Met317Leu) rs368318081
NM_130838.3(UBE3A):c.964C>T (p.Gln322Ter) rs587784534

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