ClinVar Miner

List of variants in gene combination SNHG14, UBE3A reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_001354546.2(UBE3A):c.-27_-25del rs1555403188
NM_130838.3(UBE3A):c.1004G>C (p.Ser335Thr) rs141984760
NM_130838.3(UBE3A):c.1078G>A (p.Val360Ile) rs751838524
NM_130838.3(UBE3A):c.1164A>C (p.Glu388Asp)
NM_130838.3(UBE3A):c.1170G>C (p.Leu390Phe) rs1480295793
NM_130838.3(UBE3A):c.1211C>G (p.Pro404Arg) rs1566955976
NM_130838.3(UBE3A):c.1396A>G (p.Lys466Glu) rs1566954813
NM_130838.3(UBE3A):c.1885G>A (p.Gly629Arg) rs747626553
NM_130838.3(UBE3A):c.218A>C (p.Tyr73Ser) rs772952625
NM_130838.3(UBE3A):c.70G>A (p.Glu24Lys) rs1555403204

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.