ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported 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: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
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.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035 0.00018
NM_000169.3(GLA):c.-8C>G rs371291716 0.00014
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986 0.00011
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856 0.00009
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000169.3(GLA):c.1000-14T>C rs397515868 0.00004
NM_000169.3(GLA):c.639+6A>C rs200096940 0.00003
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872 0.00003
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000169.3(GLA):c.320A>G (p.Gln107Arg) rs727505060 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.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000169.3(GLA):c.801+14C>T rs200744672 0.00001
NM_000169.3(GLA):c.1066C>T (p.Arg356Trp) rs104894827
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr) rs144994244
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.178C>A (p.Pro60Thr) rs727504689
NM_000169.3(GLA):c.194+14G>C rs876657469
NM_000169.3(GLA):c.28C>T (p.Leu10=) rs727503073
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.485G>T (p.Trp162Leu) rs727504350
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.3(GLA):c.630C>T (p.Pro210=) rs727503071
NM_000169.3(GLA):c.640-854_640-853del rs201655854
NM_000169.3(GLA):c.643A>C (p.Asn215His) rs727504794
NM_000169.3(GLA):c.680G>A (p.Arg227Gln) rs104894840
NM_000169.3(GLA):c.70T>A (p.Trp24Arg) rs397515871
NM_000169.3(GLA):c.724A>T (p.Ile242Phe) rs397515873
NM_000169.3(GLA):c.729G>C (p.Leu243Phe) rs397515874
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.797A>C (p.Asp266Ala) rs28935487
NM_000169.3(GLA):c.802-3_804delinsGGCAACTTT rs727504773
NM_000169.3(GLA):c.829T>G (p.Trp277Gly) rs727504372
NM_000169.3(GLA):c.901C>G (p.Arg301Gly) rs398123224
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828

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.