ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.2281-20A>G rs376920758 0.00009
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=) rs143000400 0.00005
NM_130839.5(UBE3A):c.1824G>A (p.Gln608=) rs760397761 0.00004
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.141G>A (p.Thr47=) rs760283316 0.00002
NM_130839.5(UBE3A):c.1272C>T (p.Pro424=) rs1057520392 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.2131G>A (p.Val711Ile) rs587784524 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.507A>G (p.Gln169=) rs1555401033 0.00001
NM_130839.5(UBE3A):c.939A>G (p.Leu313=) rs762154663 0.00001
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.1599A>G (p.Ala533=) rs1447040234
NM_130839.5(UBE3A):c.1609-20dup rs779671805
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=) rs1057523671
NM_130839.5(UBE3A):c.1753+20del rs1161685208
NM_130839.5(UBE3A):c.2086A>G (p.Asn696Asp) rs587784523
NM_130839.5(UBE3A):c.2226C>G (p.Pro742=) rs1555389825
NM_130839.5(UBE3A):c.2280G>C (p.Arg760=) rs587784525
NM_130839.5(UBE3A):c.2281-15T>C rs767720713
NM_130839.5(UBE3A):c.2499-5_2499-2del rs1555379927
NM_130839.5(UBE3A):c.328A>G (p.Met110Val) rs369853017
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>A (p.Ala198Thr) rs147145506
NM_130839.5(UBE3A):c.696T>C (p.Asp232=) rs1057523332
NM_130839.5(UBE3A):c.936G>A (p.Lys312=) rs867585000

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.