ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
Download table as spreadsheet
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.2124+9T>C rs79328837 0.00454
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_130839.5(UBE3A):c.2499-34del rs564915971 0.00204
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.1269C>T (p.Asp423=) rs149506027 0.00117
NM_130839.5(UBE3A):c.1753+1121C>A rs757526251 0.00097
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033 0.00096
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.986A>G (p.Asn329Ser) rs556829175 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.*4A>G rs755581358 0.00003
NM_130839.5(UBE3A):c.582A>G (p.Ala194=) rs764101035 0.00003
NM_130839.5(UBE3A):c.789C>T (p.Asn263=) rs1453409055 0.00003
NM_130839.5(UBE3A):c.1854G>C (p.Leu618=) rs370142725 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.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.2415T>C (p.Phe805=) rs587780991 0.00001
NM_130839.5(UBE3A):c.744A>G (p.Lys248=) rs367996463 0.00001
NM_130839.5(UBE3A):c.819A>G (p.Val273=) rs370294710 0.00001
NM_130839.5(UBE3A):c.858C>T (p.Ile286=) rs61740972 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.1065T>C (p.Ser355=)
NM_130839.5(UBE3A):c.1221G>A (p.Gln407=) rs1460036615
NM_130839.5(UBE3A):c.1546T>C (p.Leu516=) rs2152820037
NM_130839.5(UBE3A):c.1609-57dup rs369867124
NM_130839.5(UBE3A):c.1836T>C (p.Ile612=) rs1595601233
NM_130839.5(UBE3A):c.2125-96_2125-94del rs562275288
NM_130839.5(UBE3A):c.2376T>C (p.His792=) rs2152515457
NM_130839.5(UBE3A):c.592G>T (p.Ala198Ser) rs147145506
NM_130839.5(UBE3A):c.645A>C (p.Ser215=)
NM_130839.5(UBE3A):c.654C>T (p.Asp218=) rs1057523244

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.