ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as uncertain significance by Baylor Miraca Genetics Laboratories,

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP
NM_000462.5(UBE3A):c.1278C>T (p.Asp426=) rs149506027
NM_000462.5(UBE3A):c.1776C>T (p.Tyr592=) rs139082033
NM_000462.5(UBE3A):c.2508-34del rs564915971
NM_130838.1(UBE3A):c.3-19_3-17delGTT rs587782921
NM_130838.3(UBE3A):c.*3_*7CAAAA[2] (p.Ter853=) rs587782926
NM_130838.3(UBE3A):c.*46del rs368425414
NM_130838.3(UBE3A):c.1004G>C (p.Ser335Thr) rs141984760
NM_130838.3(UBE3A):c.1119T>C (p.Asp373=) rs143000400
NM_130838.3(UBE3A):c.1344A>G (p.Thr448=) rs150331504
NM_130838.3(UBE3A):c.1434G>A (p.Met478Ile) rs587782916
NM_130838.3(UBE3A):c.1548+34T>C rs587782917
NM_130838.3(UBE3A):c.1626_1628TGA[1] (p.Asp543del) rs587782909
NM_130838.3(UBE3A):c.1693+32G>A rs373746667
NM_130838.3(UBE3A):c.1762C>G (p.Gln588Glu) rs587782918
NM_130838.3(UBE3A):c.1763A>C (p.Gln588Pro) rs587782919
NM_130838.3(UBE3A):c.2+20G>A rs587782906
NM_130838.3(UBE3A):c.2018T>G (p.Leu673Arg) rs587782920
NM_130838.3(UBE3A):c.2031T>C (p.Gly677=) rs587782924
NM_130838.3(UBE3A):c.2036A>C (p.Lys679Thr) rs202161423
NM_130838.3(UBE3A):c.2064+19T>G rs587782925
NM_130838.3(UBE3A):c.2064+9T>C rs79328837
NM_130838.3(UBE3A):c.2221-42T>C rs543571933
NM_130838.3(UBE3A):c.2284G>A (p.Val762Ile) rs587782910
NM_130838.3(UBE3A):c.2294+20A>G rs587782911
NM_130838.3(UBE3A):c.2355T>C (p.Phe785=) rs587780991
NM_130838.3(UBE3A):c.2439-31T>G rs587782912
NM_130838.3(UBE3A):c.2439-37dup rs587782913
NM_130838.3(UBE3A):c.2439-40C>T rs373042168
NM_130838.3(UBE3A):c.301+29T>C rs587782914
NM_130838.3(UBE3A):c.301+30G>A rs367646993
NM_130838.3(UBE3A):c.313T>C (p.Leu105=) rs61734190
NM_130838.3(UBE3A):c.349T>C (p.Cys117Arg) rs587782907
NM_130838.3(UBE3A):c.398T>G (p.Val133Gly) rs587782915
NM_130838.3(UBE3A):c.417A>T (p.Ala139=) rs28528079
NM_130838.3(UBE3A):c.558A>T (p.Ala186=) rs143484751
NM_130838.3(UBE3A):c.611T>C (p.Leu204Ser) rs587782922
NM_130838.3(UBE3A):c.755A>G (p.Asn252Ser) rs139928148
NM_130838.3(UBE3A):c.809A>C (p.Asn270Thr) rs587782908
NM_130838.3(UBE3A):c.855A>G (p.Leu285=) rs587782923

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.