ClinVar Miner

List of variants reported as uncertain significance for Nakajo-Nishimura syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_148919.4(PSMB8):c.*178G>A rs886061309
NM_148919.4(PSMB8):c.*24G>T rs115441230
NM_148919.4(PSMB8):c.*6G>C rs371747700
NM_148919.4(PSMB8):c.*8G>A rs376750959
NM_148919.4(PSMB8):c.-35C>T rs886061311
NM_148919.4(PSMB8):c.167C>A (p.Ser56Tyr) rs886061310
NM_148919.4(PSMB8):c.167_168delinsGT (p.Ser56Cys) rs1562352512
NM_148919.4(PSMB8):c.229G>A (p.Ala77Thr) rs774341327
NM_148919.4(PSMB8):c.240C>G (p.Phe80Leu)
NM_148919.4(PSMB8):c.295A>G (p.Ser99Gly) rs1381795628
NM_148919.4(PSMB8):c.306_307delinsAA (p.Val103Met)
NM_148919.4(PSMB8):c.371G>C (p.Cys124Ser)
NM_148919.4(PSMB8):c.386G>T (p.Arg129Leu) rs369078226
NM_148919.4(PSMB8):c.483G>A (p.Gln161=) rs41270492
NM_148919.4(PSMB8):c.515T>C (p.Met172Thr)
NM_148919.4(PSMB8):c.517A>G (p.Ile173Val)
NM_148919.4(PSMB8):c.633G>A (p.Met211Ile) rs137937891
NM_148919.4(PSMB8):c.670G>T (p.Ala224Ser) rs114636648
NM_148919.4(PSMB8):c.686G>A (p.Arg229His) rs547653681
NM_148919.4(PSMB8):c.695T>C (p.Ile232Thr)
NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys) rs55853041
NM_148919.4(PSMB8):c.715G>A (p.Asp239Asn) rs1554238810
NM_148919.4(PSMB8):c.731G>A (p.Gly244Asp) rs200995701
NM_148919.4(PSMB8):c.755A>C (p.Lys252Thr)
NM_148919.4(PSMB8):c.800T>G (p.Leu267Arg) rs1554238585
NM_148919.4(PSMB8):c.804G>A (p.Leu268=) rs371969268
NM_148919.4(PSMB8):c.814C>T (p.Arg272Trp) rs371006338
NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln) rs368551668

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.