ClinVar Miner

List of variants in gene combination SNHG14, UBE3A studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 70
Download table as spreadsheet
HGVS dbSNP
NM_000462.5(UBE3A):c.498C>G (p.Ser166Arg)
NM_130838.1(UBE3A):c.-6498G>A rs541619343
NM_130838.1(UBE3A):c.1109A>G (p.Asn370Ser) rs147446244
NM_130838.1(UBE3A):c.1119T>C (p.Asp373=) rs143000400
NM_130838.1(UBE3A):c.1125A>T (p.Glu375Asp) rs114056442
NM_130838.1(UBE3A):c.116G>A (p.Arg39His) rs587784511
NM_130838.1(UBE3A):c.1212C>T (p.Pro404=) rs1057520392
NM_130838.1(UBE3A):c.1278T>C (p.Phe426=) rs371154816
NM_130838.1(UBE3A):c.1461C>T (p.Leu487=) rs878855201
NM_130838.1(UBE3A):c.1539A>G (p.Ala513=) rs1447040234
NM_130838.1(UBE3A):c.1560C>T (p.Ile520=) rs1057523671
NM_130838.1(UBE3A):c.1694-4A>G rs780429591
NM_130838.1(UBE3A):c.1697T>G (p.Met566Arg) rs587781244
NM_130838.1(UBE3A):c.1764G>A (p.Gln588=) rs760397761
NM_130838.1(UBE3A):c.1877G>C (p.Arg626Pro) rs374601913
NM_130838.1(UBE3A):c.1905A>G (p.Leu635=) rs371296838
NM_130838.1(UBE3A):c.2026A>G (p.Asn676Asp) rs587784523
NM_130838.1(UBE3A):c.2036A>C (p.Lys679Thr) rs202161423
NM_130838.1(UBE3A):c.2064+8A>G rs1057522487
NM_130838.1(UBE3A):c.2071G>A (p.Val691Ile) rs587784524
NM_130838.1(UBE3A):c.2220+17C>T rs767903684
NM_130838.1(UBE3A):c.2220G>C (p.Arg740=) rs587784525
NM_130838.1(UBE3A):c.2221-15T>C rs767720713
NM_130838.1(UBE3A):c.2221-20A>G rs376920758
NM_130838.1(UBE3A):c.2284G>A (p.Val762Ile) rs587782910
NM_130838.1(UBE3A):c.2310C>T (p.Ile770=) rs767254317
NM_130838.1(UBE3A):c.2355T>C (p.Phe785=) rs587780991
NM_130838.1(UBE3A):c.2444C>G (p.Pro815Arg) rs863225069
NM_130838.1(UBE3A):c.2532G>A (p.Thr844=) rs377110924
NM_130838.1(UBE3A):c.268A>G (p.Met90Val) rs369853017
NM_130838.1(UBE3A):c.301+18C>G rs773112531
NM_130838.1(UBE3A):c.352A>G (p.Arg118Gly) rs587783100
NM_130838.1(UBE3A):c.397G>A (p.Val133Ile) rs199636913
NM_130838.1(UBE3A):c.594C>T (p.Asp198=) rs1057523244
NM_130838.1(UBE3A):c.599A>C (p.Asn200Thr) rs528422241
NM_130838.1(UBE3A):c.611T>C (p.Leu204Ser) rs587782922
NM_130838.1(UBE3A):c.636T>C (p.Asp212=) rs1057523332
NM_130838.1(UBE3A):c.684A>G (p.Lys228=) rs367996463
NM_130838.1(UBE3A):c.755A>G (p.Asn252Ser) rs139928148
NM_130838.1(UBE3A):c.81G>A (p.Thr27=) rs760283316
NM_130838.1(UBE3A):c.840_852delAATGGCTTTGCCAinsC (p.Glu280_Pro284delinsAsp) rs797046089
NM_130838.1(UBE3A):c.876G>A (p.Lys292=) rs867585000
NM_130838.1(UBE3A):c.879A>G (p.Leu293=) rs762154663
NM_130838.1(UBE3A):c.947T>C (p.Met316Thr) rs863225071
NM_130838.1(UBE3A):c.949A>T (p.Met317Leu) rs368318081
NM_130838.1(UBE3A):c.978T>C (p.Tyr326=) rs1057520481
NM_130838.2(UBE3A):c.1168T>C (p.Leu390=) rs143310195
NM_130838.2(UBE3A):c.1275G>A (p.Glu425=) rs1555400103
NM_130838.2(UBE3A):c.1693+20delG rs1161685208
NM_130838.2(UBE3A):c.1899+11T>A rs771390878
NM_130838.2(UBE3A):c.2166C>G (p.Pro722=) rs1555389825
NM_130838.2(UBE3A):c.2221-12T>C rs1297457627
NM_130838.2(UBE3A):c.2439-5_2439-2delTTTA rs1555379927
NM_130838.2(UBE3A):c.282C>A (p.Gly94=) rs142726511
NM_130838.2(UBE3A):c.447A>G (p.Gln149=) rs1555401033
NM_130838.3(UBE3A):c.-40A>G rs752810430
NM_130838.3(UBE3A):c.1004G>C (p.Ser335Thr) rs141984760
NM_130838.3(UBE3A):c.1125A>G (p.Glu375=) rs114056442
NM_130838.3(UBE3A):c.1209C>T (p.Asp403=) rs149506027
NM_130838.3(UBE3A):c.1344A>G (p.Thr448=) rs150331504
NM_130838.3(UBE3A):c.1549-18dup rs779671805
NM_130838.3(UBE3A):c.1707C>T (p.Tyr569=) rs139082033
NM_130838.3(UBE3A):c.1713A>G (p.Glu571=) rs34670662
NM_130838.3(UBE3A):c.2064+9T>C rs79328837
NM_130838.3(UBE3A):c.2558A>G (p.Ter853=) rs76794400
NM_130838.3(UBE3A):c.313T>C (p.Leu105=) rs61734190
NM_130838.3(UBE3A):c.417A>T (p.Ala139=) rs28528079
NM_130838.3(UBE3A):c.532G>A (p.Ala178Thr) rs147145506
NM_130838.3(UBE3A):c.558A>T (p.Ala186=) rs143484751
NM_130838.3(UBE3A):c.729C>T (p.Asn243=) rs1453409055

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.