ClinVar Miner

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

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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_130839.5(UBE3A):c.477A>T (p.Ala159=) rs28528079 0.03018
NM_130839.5(UBE3A):c.1773A>G (p.Glu591=) rs34670662 0.02620
NM_130839.5(UBE3A):c.373T>C (p.Leu125=) rs61734190 0.02311
NM_130839.5(UBE3A):c.2124+9T>C rs79328837 0.00454
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027 0.00117
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033 0.00096
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=) rs150331504 0.00054
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) rs139928148 0.00009
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr) rs202161423 0.00007
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=) rs143000400 0.00005
NM_130839.5(UBE3A):c.1169A>G (p.Asn390Ser) rs147446244 0.00004
NM_130839.5(UBE3A):c.2344G>A (p.Val782Ile) rs587782910 0.00003
NM_130839.5(UBE3A):c.1192A>C (p.Ile398Leu) rs200380619 0.00002
NM_130839.5(UBE3A):c.1009A>T (p.Met337Leu) rs368318081 0.00001
NM_130839.5(UBE3A):c.1176A>T (p.Glu392Asp) rs587784510 0.00001
NM_130839.5(UBE3A):c.1272C>T (p.Pro424=) rs1057520392 0.00001
NM_130839.5(UBE3A):c.1753+12A>G rs368720379 0.00001
NM_130839.5(UBE3A):c.1754-4A>G rs780429591 0.00001
NM_130839.5(UBE3A):c.176G>A (p.Arg59His) rs587784511 0.00001
NM_130839.5(UBE3A):c.1881T>C (p.Asp627=) rs587784522 0.00001
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=) rs371296838 0.00001
NM_130839.5(UBE3A):c.2131G>A (p.Val711Ile) rs587784524 0.00001
NM_130839.5(UBE3A):c.671T>C (p.Leu224Ser) rs587782922 0.00001
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.1185A>T (p.Glu395Asp) rs114056442
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.1599A>G (p.Ala533=) rs1447040234
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=) rs1057523671
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.1675G>C (p.Glu559Gln) rs2152730149
NM_130839.5(UBE3A):c.1687G>T (p.Asp563Tyr) rs2152730118
NM_130839.5(UBE3A):c.1694G>A (p.Gly565Glu) rs587784516
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.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.1823A>G (p.Gln608Arg) rs587782919
NM_130839.5(UBE3A):c.1834_1837del (p.Ile612fs) rs587784520
NM_130839.5(UBE3A):c.1865A>G (p.Asn622Ser) rs587784521
NM_130839.5(UBE3A):c.1937G>C (p.Arg646Pro) rs374601913
NM_130839.5(UBE3A):c.2086A>G (p.Asn696Asp) rs587784523
NM_130839.5(UBE3A):c.2238dup (p.Phe747fs) rs797046085
NM_130839.5(UBE3A):c.2280G>C (p.Arg760=) rs587784525
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.2376T>C (p.His792=) rs2152515457
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.2563C>T (p.Leu855Phe) rs587783097
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.2609G>A (p.Gly870Asp) rs587784528
NM_130839.5(UBE3A):c.2616_*6del (p.Ter873GlnextTer?) rs587781232
NM_130839.5(UBE3A):c.328A>G (p.Met110Val) rs369853017
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.448_459del (p.Ile150_Val153del) rs587784531
NM_130839.5(UBE3A):c.458T>G (p.Val153Gly) rs587782915
NM_130839.5(UBE3A):c.463dup (p.Ser155fs) rs587780572
NM_130839.5(UBE3A):c.565_571del (p.Glu189fs) rs587784532
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_130839.5(UBE3A):c.62+1_62+2insAA rs797046084
NM_130839.5(UBE3A):c.659A>C (p.Asn220Thr) rs528422241
NM_130839.5(UBE3A):c.889G>T (p.Glu297Ter) rs587784533
NM_130839.5(UBE3A):c.900_912delinsC (p.Glu300_Pro304delinsAsp) rs797046089
NM_130839.5(UBE3A):c.936G>A (p.Lys312=) rs867585000

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