ClinVar Miner

List of variants reported as uncertain significance for Beckwith-Wiedemann syndrome by Fulgent Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000076.2(CDKN1C):c.-266G>A rs147317732
NM_000076.2(CDKN1C):c.848C>T (p.Ala283Val) rs776541692
NM_000218.2(KCNQ1):c.1128+5G>A rs76735093
NM_000218.2(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381
NM_000218.2(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963
NM_000218.2(KCNQ1):c.1555C>T (p.Arg519Cys) rs199472787
NM_000218.2(KCNQ1):c.1861G>A (p.Gly621Ser) rs199472820
NM_000218.2(KCNQ1):c.1885G>A (p.Gly629Ser) rs775608046
NM_000218.2(KCNQ1):c.296C>G (p.Pro99Arg) rs370435862
NM_000218.2(KCNQ1):c.514G>A (p.Val172Met) rs199472694
NM_000218.2(KCNQ1):c.644T>G (p.Val215Gly) rs368011737
NM_022455.4(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824

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.