ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as likely pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.3(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.3(GLA):c.386T>C (p.Leu129Pro) rs727503072
NM_000169.3(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.3(GLA):c.802-3_804delinsGGCAACTTT rs727504773

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.