ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as pathogenic by Albrecht-Kossel-Institute,Medical University Rostock

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_000169.2(GLA):c.104G>A (p.Gly35Glu) rs869312137
NM_000169.2(GLA):c.1067G>C (p.Arg356Pro) rs869312163
NM_000169.2(GLA):c.107T>G (p.Leu36Trp) rs869312138
NM_000169.2(GLA):c.190A>T (p.Ile64Phe) rs869312139
NM_000169.2(GLA):c.256T>C (p.Tyr86His) rs869312140
NM_000169.2(GLA):c.272T>A (p.Ile91Asn) rs869312141
NM_000169.2(GLA):c.540G>T (p.Leu180Phe) rs869312145
NM_000169.2(GLA):c.561G>A (p.Met187Ile) rs869312146
NM_000169.2(GLA):c.59C>A (p.Ala20Asp) rs869312134
NM_000169.2(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.2(GLA):c.62T>C (p.Leu21Pro) rs869312135
NM_000169.2(GLA):c.638A>G (p.Lys213Arg) rs869312149
NM_000169.2(GLA):c.680G>C (p.Arg227Pro) rs104894840
NM_000169.2(GLA):c.724A>G (p.Ile242Val) rs397515873
NM_000169.2(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.2(GLA):c.784T>C (p.Trp262Arg) rs869312154
NM_000169.2(GLA):c.806T>G (p.Val269Gly) rs28935488
NM_000169.2(GLA):c.950T>G (p.Ile317Ser) rs869312158
NM_000169.2(GLA):c.980A>G (p.Gln327Arg) rs869312160
NM_000169.2(GLA):c.980A>T (p.Gln327Leu) rs869312160
NM_000169.2(GLA):c.98A>G (p.Asp33Gly) rs869312136

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.