ClinVar Miner

List of variants in gene combination SNHG14, UBE3A studied for Inborn genetic diseases

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Total variants: 69
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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.1185A>G (p.Glu395=) rs114056442 0.00599
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_130839.5(UBE3A):c.618A>T (p.Ala206=) rs143484751 0.00121
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.927G>A (p.Ala309=) rs576963061 0.00013
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=) rs371154816 0.00009
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) rs139928148 0.00009
NM_130839.5(UBE3A):c.2322C>T (p.Asp774=) rs759095902 0.00006
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) rs141984760 0.00004
NM_130839.5(UBE3A):c.1032T>C (p.Ile344=) rs755119609 0.00003
NM_130839.5(UBE3A):c.2344G>A (p.Val782Ile) rs587782910 0.00003
NM_130839.5(UBE3A):c.589G>T (p.Ala197Ser) rs752711811 0.00003
NM_130839.5(UBE3A):c.789C>T (p.Asn263=) rs1453409055 0.00003
NM_130839.5(UBE3A):c.222G>A (p.Lys74=) rs759225128 0.00002
NM_130839.5(UBE3A):c.1138G>A (p.Val380Ile) rs751838524 0.00001
NM_130839.5(UBE3A):c.1881T>C (p.Asp627=) rs587784522 0.00001
NM_130839.5(UBE3A):c.1945G>A (p.Gly649Arg) rs747626553 0.00001
NM_130839.5(UBE3A):c.2370C>T (p.Ile790=) rs767254317 0.00001
NM_130839.5(UBE3A):c.356T>G (p.Phe119Cys) rs753429030 0.00001
NM_130839.5(UBE3A):c.1032_1038del (p.Thr345fs) rs587781192
NM_130839.5(UBE3A):c.1206C>T (p.Ser402=) rs774072376
NM_130839.5(UBE3A):c.1224A>C (p.Glu408Asp) rs769775137
NM_130839.5(UBE3A):c.1230G>C (p.Leu410Phe) rs1480295793
NM_130839.5(UBE3A):c.1261C>T (p.Arg421Ter) rs587781196
NM_130839.5(UBE3A):c.1271C>G (p.Pro424Arg) rs1566955976
NM_130839.5(UBE3A):c.130G>A (p.Glu44Lys) rs1555403204
NM_130839.5(UBE3A):c.1314_1402del (p.Lys438fs) rs1555400067
NM_130839.5(UBE3A):c.1318_1321delinsATAAAC (p.Leu440fs)
NM_130839.5(UBE3A):c.1322T>G (p.Ile441Ser)
NM_130839.5(UBE3A):c.1423A>G (p.Met475Val) rs864309507
NM_130839.5(UBE3A):c.1456A>G (p.Lys486Glu) rs1566954813
NM_130839.5(UBE3A):c.151_153del (p.Cys51del) rs1555403188
NM_130839.5(UBE3A):c.1577G>A (p.Arg526His) rs1064795012
NM_130839.5(UBE3A):c.1609-8A>G rs2077891986
NM_130839.5(UBE3A):c.1693G>A (p.Gly565Arg) rs587781233
NM_130839.5(UBE3A):c.1782del (p.Lys594fs) rs1555391286
NM_130839.5(UBE3A):c.1865A>G (p.Asn622Ser) rs587784521
NM_130839.5(UBE3A):c.1871_1872del (p.Cys624fs) rs864309508
NM_130839.5(UBE3A):c.1937G>A (p.Arg646His) rs374601913
NM_130839.5(UBE3A):c.1983T>C (p.Asp661=)
NM_130839.5(UBE3A):c.199A>G (p.Ile67Val) rs587783146
NM_130839.5(UBE3A):c.2169A>G (p.Val723=)
NM_130839.5(UBE3A):c.2239T>G (p.Phe747Val) rs2076968651
NM_130839.5(UBE3A):c.237_238del (p.Leu79_Cys80insTer)
NM_130839.5(UBE3A):c.2403CTT[1] (p.Phe802del) rs1555380820
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala) rs374519603
NM_130839.5(UBE3A):c.2430C>T (p.Asp810=) rs1566825584
NM_130839.5(UBE3A):c.2446G>C (p.Gly816Arg) rs2074496673
NM_130839.5(UBE3A):c.2461_2470del (p.Leu820_Lys821insTer) rs1566825063
NM_130839.5(UBE3A):c.2516C>T (p.Thr839Ile)
NM_130839.5(UBE3A):c.2527G>A (p.Val843Met)
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu) rs587781239
NM_130839.5(UBE3A):c.2555A>G (p.Lys852Arg)
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.2598C>T (p.Ala866=) rs748580495
NM_130839.5(UBE3A):c.278A>C (p.Tyr93Ser) rs772952625
NM_130839.5(UBE3A):c.342C>A (p.Gly114=) rs142726511
NM_130839.5(UBE3A):c.343G>A (p.Ala115Thr) rs376815580
NM_130839.5(UBE3A):c.406T>C (p.Leu136=) rs1566962877
NM_130839.5(UBE3A):c.43G>A (p.Asp15Asn)
NM_130839.5(UBE3A):c.4G>T (p.Ala2Ser)
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_130839.5(UBE3A):c.886C>G (p.Pro296Ala)
NM_130839.5(UBE3A):c.977C>G (p.Ser326Cys)

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