ClinVar Miner

List of variants reported as benign for Fabry disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.1000-22C>T rs2071228 0.33579
NM_000169.3(GLA):c.640-16A>G rs2071397 0.12447
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_019597.5(HNRNPH2):c.-54+353C>G rs3027580 0.06337
NM_000169.2(GLA):c.-105A>G rs3027583 0.04009
NM_000169.2(GLA):c.-30G>A rs3027584 0.00873
NM_000169.3(GLA):c.194+17A>G rs2071226 0.00379
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362 0.00100
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_000169.3(GLA):c.639+18G>A rs189319122 0.00087
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035 0.00018
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869 0.00001
NM_000169.3(GLA):c.311G>A (p.Gly104Asp) rs869312274
NM_000169.3(GLA):c.369+15A>G
NM_000169.3(GLA):c.370-81_370-77del rs5903184
NM_000169.3(GLA):c.460A>G (p.Ile154Val)
NM_000169.3(GLA):c.490G>T (p.Val164Leu) rs869312144
NM_000169.3(GLA):c.639+10_639+13del rs782473708
NM_000169.3(GLA):c.640-854_640-853del rs201655854
NM_000169.3(GLA):c.801+7dup

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.