ClinVar Miner

List of variants reported as likely pathogenic for Fabry disease by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.596T>C (p.Val199Ala) rs781871113 0.00001
NM_000169.3(GLA):c.605G>C (p.Cys202Ser) rs869312344 0.00001
NC_000023.11:g.(?_101401237)_(101403995_?)dup
NM_000169.3(GLA):c.1076T>C (p.Ile359Thr) rs1928132914
NM_000169.3(GLA):c.1078G>C (p.Gly360Arg) rs782598150
NM_000169.3(GLA):c.1079G>A (p.Gly360Asp) rs782509013
NM_000169.3(GLA):c.1084C>A (p.Pro362Thr)
NM_000169.3(GLA):c.109G>A (p.Ala37Thr) rs869312226
NM_000169.3(GLA):c.1133G>A (p.Cys378Tyr)
NM_000169.3(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.3(GLA):c.137A>C (p.His46Pro)
NM_000169.3(GLA):c.149T>G (p.Phe50Cys)
NM_000169.3(GLA):c.176A>T (p.Glu59Val)
NM_000169.3(GLA):c.197A>G (p.Glu66Gly) rs869312264
NM_000169.3(GLA):c.202C>T (p.Leu68Phe) rs1928411447
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.254G>C (p.Gly85Ala) rs1569304898
NM_000169.3(GLA):c.265C>T (p.Leu89Phe) rs1555986305
NM_000169.3(GLA):c.266T>G (p.Leu89Arg) rs1569304886
NM_000169.3(GLA):c.275A>T (p.Asp92Val)
NM_000169.3(GLA):c.278A>G (p.Asp93Gly)
NM_000169.3(GLA):c.281G>T (p.Cys94Phe) rs113173389
NM_000169.3(GLA):c.285G>T (p.Trp95Cys)
NM_000169.3(GLA):c.326A>G (p.Asp109Gly) rs1064794205
NM_000169.3(GLA):c.358C>G (p.Leu120Val)
NM_000169.3(GLA):c.361G>C (p.Ala121Pro) rs782197638
NM_000169.3(GLA):c.400T>C (p.Tyr134His)
NM_000169.3(GLA):c.413G>T (p.Gly138Val)
NM_000169.3(GLA):c.422C>T (p.Thr141Ile) rs886044843
NM_000169.3(GLA):c.439G>A (p.Gly147Arg) rs1555985830
NM_000169.3(GLA):c.444T>G (p.Ser148Arg) rs1569304190
NM_000169.3(GLA):c.454T>G (p.Tyr152Asp) rs1928323615
NM_000169.3(GLA):c.47T>C (p.Leu16Pro)
NM_000169.3(GLA):c.484T>C (p.Trp162Arg) rs28935196
NM_000169.3(GLA):c.620A>C (p.Tyr207Ser) rs797044727
NM_000169.3(GLA):c.62T>C (p.Leu21Pro) rs869312135
NM_000169.3(GLA):c.639+2T>C rs2147475773
NM_000169.3(GLA):c.639+5G>A rs1928277140
NM_000169.3(GLA):c.640-1del rs1555985200
NM_000169.3(GLA):c.640-859C>T rs869312374
NM_000169.3(GLA):c.674A>G (p.His225Arg) rs2147473301
NM_000169.3(GLA):c.695T>C (p.Ile232Thr) rs797044749
NM_000169.3(GLA):c.697GAT[1] (p.Asp234del) rs1928194190
NM_000169.3(GLA):c.700G>T (p.Asp234Tyr) rs1057524557
NM_000169.3(GLA):c.748C>A (p.Gln250Lys) rs398123221
NM_000169.3(GLA):c.778G>A (p.Gly260Arg) rs2147472959
NM_000169.3(GLA):c.791A>T (p.Asp264Val) rs28935486
NM_000169.3(GLA):c.812G>T (p.Gly271Val) rs869312429
NM_000169.3(GLA):c.818T>C (p.Phe273Ser) rs869312430
NM_000169.3(GLA):c.820G>C (p.Gly274Arg) rs2147472458
NM_000169.3(GLA):c.828C>A (p.Ser276Arg) rs1555985010
NM_000169.3(GLA):c.861G>T (p.Trp287Cys) rs104894839
NM_000169.3(GLA):c.871G>A (p.Ala291Thr) rs869312439
NM_000169.3(GLA):c.886A>T (p.Met296Leu)
NM_000169.3(GLA):c.887T>C (p.Met296Thr) rs869312442
NM_000169.3(GLA):c.889T>C (p.Ser297Pro) rs1928167952
NM_000169.3(GLA):c.890C>A (p.Ser297Tyr) rs28935489
NM_000169.3(GLA):c.908T>A (p.Ile303Asn)
NM_000169.3(GLA):c.92C>T (p.Ala31Val) rs869312448
NM_000169.3(GLA):c.983G>A (p.Gly328Glu)

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.