ClinVar Miner

List of variants studied for Fabry disease by Natera, Inc.

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.-30G>A rs3027584 0.00873
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000169.3(GLA):c.-44C>T rs781906252 0.00025
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986 0.00011
NM_000169.3(GLA):c.635A>G (p.Gln212Arg) rs1372233359 0.00010
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856 0.00009
NM_000169.3(GLA):c.1093T>A (p.Tyr365Asn) rs367658155 0.00006
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000169.3(GLA):c.755G>C (p.Arg252Thr) rs147026639 0.00005
NM_000169.3(GLA):c.891T>C (p.Ser297=) rs782575087 0.00005
NM_000169.3(GLA):c.1184G>C (p.Gly395Ala) rs375661583 0.00004
NM_000169.3(GLA):c.416A>G (p.Asn139Ser) rs138886989 0.00003
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro) rs886044779 0.00002
NM_000169.3(GLA):c.1256A>T (p.Asn419Ile) rs1060500749 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000169.3(GLA):c.831G>C (p.Trp277Cys) rs782196174 0.00002
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162 0.00001
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.1207T>C (p.Leu403=) rs869312239 0.00001
NM_000169.3(GLA):c.247G>A (p.Asp83Asn) rs782722577 0.00001
NM_000169.3(GLA):c.313A>G (p.Arg105Gly) rs782092398 0.00001
NM_000169.3(GLA):c.548-10T>A rs782440801 0.00001
NM_000169.3(GLA):c.590G>A (p.Ser197Asn) rs201679091 0.00001
NM_000169.3(GLA):c.596T>C (p.Val199Ala) rs781871113 0.00001
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000169.3(GLA):c.727T>C (p.Leu243=) rs782453201 0.00001
NM_000169.3(GLA):c.1255A>G (p.Asn419Asp) rs879254061
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.337T>C (p.Phe113Leu) rs869312142
NM_000169.3(GLA):c.525C>A (p.Asp175Glu) rs782722844
NM_000169.3(GLA):c.525C>G (p.Asp175Glu) rs782722844
NM_000169.3(GLA):c.640-854_640-853del rs201655854
NM_000169.3(GLA):c.659G>A (p.Arg220Gln) rs869312378
NM_000169.3(GLA):c.70T>A (p.Trp24Arg) rs397515871
NM_000169.3(GLA):c.85G>T (p.Ala29Ser) rs142449183
NM_000169.3(GLA):c.870G>A (p.Met290Ile) rs869312438
NM_000169.3(GLA):c.926C>T (p.Ala309Val) rs869312155
NM_000169.3(GLA):c.967C>A (p.Pro323Thr) rs147737890

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.