ClinVar Miner

List of variants reported as uncertain significance for Stankiewicz-Isidor syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002816.5(PSMD12):c.1096A>G (p.Met366Val) rs1598552881
NM_002816.5(PSMD12):c.1164_1166delinsTTT (p.Glu388_Ser389delinsAspPhe)
NM_002816.5(PSMD12):c.1272A>T (p.Leu424Phe) rs2143677818
NM_002816.5(PSMD12):c.1342A>G (p.Lys448Glu)
NM_002816.5(PSMD12):c.299C>T (p.Ala100Val)
NM_002816.5(PSMD12):c.355C>T (p.Pro119Ser) rs2042005294
NM_002816.5(PSMD12):c.635A>G (p.Lys212Arg)
NM_002816.5(PSMD12):c.79C>A (p.Arg27Ser) rs1168437403
NM_002816.5(PSMD12):c.881A>G (p.Lys294Arg)

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.