ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_130839.5(UBE3A):c.-164-178_-164-177dup rs137888437 0.04004
NM_130839.5(UBE3A):c.-164-5870T>G rs76369560 0.01402
NM_130839.5(UBE3A):c.1754-271A>G rs75606291 0.01175
NM_130839.5(UBE3A):c.362-115C>T rs116216054 0.00962
NM_130839.5(UBE3A):c.-100-312C>T rs185254524 0.00920
NM_130839.5(UBE3A):c.1754-161G>C rs8023329 0.00909
NM_130839.5(UBE3A):c.2354+164C>T rs112494329 0.00873
NM_130839.5(UBE3A):c.20+545G>A rs115841099 0.00580
NM_130839.5(UBE3A):c.1608+304C>G rs117769430 0.00566
NM_130839.5(UBE3A):c.*199A>G rs182421497 0.00179
NM_130839.5(UBE3A):c.-100-195A>G rs762874140 0.00165
NM_130839.5(UBE3A):c.618A>T (p.Ala206=) rs143484751 0.00121
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=) rs371154816 0.00009
NM_130839.5(UBE3A):c.2281-20A>G rs376920758 0.00009
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.1228T>C (p.Leu410=) rs143310195 0.00006
NM_130839.5(UBE3A):c.2322C>T (p.Asp774=) rs759095902 0.00006
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=) rs143000400 0.00005
NM_130839.5(UBE3A):c.1482T>C (p.Asn494=) rs776564692 0.00004
NM_130839.5(UBE3A):c.1728G>A (p.Val576=) rs749731066 0.00004
NM_130839.5(UBE3A):c.1824G>A (p.Gln608=) rs760397761 0.00004
NM_130839.5(UBE3A):c.*4A>G rs755581358 0.00003
NM_130839.5(UBE3A):c.1038T>C (p.Tyr346=) rs1057520481 0.00003
NM_130839.5(UBE3A):c.1959+11T>A rs771390878 0.00003
NM_130839.5(UBE3A):c.2344G>A (p.Val782Ile) rs587782910 0.00003
NM_130839.5(UBE3A):c.789C>T (p.Asn263=) rs1453409055 0.00003
NM_130839.5(UBE3A):c.141G>A (p.Thr47=) rs760283316 0.00002
NM_130839.5(UBE3A):c.2065A>G (p.Met689Val) rs755765955 0.00002
NM_130839.5(UBE3A):c.412A>G (p.Arg138Gly) rs587783100 0.00002
NM_130839.5(UBE3A):c.1272C>T (p.Pro424=) rs1057520392 0.00001
NM_130839.5(UBE3A):c.1754-3T>C rs1398256620 0.00001
NM_130839.5(UBE3A):c.1936C>T (p.Arg646Cys) rs746286431 0.00001
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=) rs371296838 0.00001
NM_130839.5(UBE3A):c.2124+8A>G rs1057522487 0.00001
NM_130839.5(UBE3A):c.21A>G (p.Arg7=) rs752810430 0.00001
NM_130839.5(UBE3A):c.2280+17C>T rs767903684 0.00001
NM_130839.5(UBE3A):c.2281-12T>C rs1297457627 0.00001
NM_130839.5(UBE3A):c.2370C>T (p.Ile790=) rs767254317 0.00001
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=) rs587780991 0.00001
NM_130839.5(UBE3A):c.507A>G (p.Gln169=) rs1555401033 0.00001
NM_130839.5(UBE3A):c.744A>G (p.Lys248=) rs367996463 0.00001
NM_130839.5(UBE3A):c.858C>T (p.Ile286=) rs61740972 0.00001
NM_130839.5(UBE3A):c.939A>G (p.Leu313=) rs762154663 0.00001
NM_130839.5(UBE3A):c.*12del rs745340054
NM_130839.5(UBE3A):c.*22_*35del rs573271880
NM_130839.5(UBE3A):c.*3CAAAA[2] (p.Ter873=) rs587782926
NM_130839.5(UBE3A):c.*3_*17del (p.Ter873=) rs587782926
NM_130839.5(UBE3A):c.-164-969dup rs202014453
NM_130839.5(UBE3A):c.1335G>A (p.Glu445=) rs1555400103
NM_130839.5(UBE3A):c.1521C>T (p.Leu507=) rs878855201
NM_130839.5(UBE3A):c.1546T>C (p.Leu516=) rs2152820037
NM_130839.5(UBE3A):c.1609-20dup rs779671805
NM_130839.5(UBE3A):c.1609-57dup rs369867124
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=) rs1057523671
NM_130839.5(UBE3A):c.1753+20del rs1161685208
NM_130839.5(UBE3A):c.2125-96_2125-94del rs562275288
NM_130839.5(UBE3A):c.2226C>G (p.Pro742=) rs1555389825
NM_130839.5(UBE3A):c.2281-15T>C rs767720713
NM_130839.5(UBE3A):c.2499-5_2499-2del rs1555379927
NM_130839.5(UBE3A):c.342C>A (p.Gly114=) rs142726511
NM_130839.5(UBE3A):c.361+18C>G rs773112531
NM_130839.5(UBE3A):c.592G>T (p.Ala198Ser) rs147145506
NM_130839.5(UBE3A):c.654C>T (p.Asp218=) rs1057523244
NM_130839.5(UBE3A):c.696T>C (p.Asp232=) rs1057523332

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