ClinVar Miner

List of variants studied for Multiple congenital anomalies-hypotonia-seizures syndrome 3 by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015937.6(PIGT):c.494-2A>G rs200790673 0.00006
NM_015937.6(PIGT):c.918dup (p.Val307fs) rs751861982 0.00005
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp) rs527236031 0.00004
NM_015937.6(PIGT):c.514C>T (p.Arg172Cys) rs778531326 0.00002
NM_015937.6(PIGT):c.1079G>T (p.Gly360Val) rs1277383877 0.00001
NM_015937.6(PIGT):c.250G>T (p.Glu84Ter) rs756632799 0.00001
NM_015937.6(PIGT):c.1096G>T (p.Gly366Trp) rs571714796
NM_015937.6(PIGT):c.547A>C (p.Thr183Pro) rs587777027

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.