ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 90
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_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.640-731G>A rs2473815 0.00218
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.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.123C>T (p.Thr41=) rs137902198 0.00017
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.1093T>A (p.Tyr365Asn) rs367658155 0.00006
NM_000169.2(GLA):c.-32G>A rs1057523740 0.00005
NM_000169.3(GLA):c.-13G>C rs782051708 0.00004
NM_000169.3(GLA):c.1000-14T>C rs397515868 0.00004
NM_000169.3(GLA):c.1261A>G (p.Met421Val) rs144060196 0.00004
NM_000169.3(GLA):c.6G>A (p.Gln2=) rs782748047 0.00004
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln) rs869312163 0.00003
NM_000169.3(GLA):c.416A>G (p.Asn139Ser) rs138886989 0.00003
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.501A>T (p.Leu167=) rs782486830 0.00002
NM_000169.3(GLA):c.984G>T (p.Gly328=) rs376623208 0.00002
NM_000169.3(GLA):c.991C>T (p.Leu331Phe) rs730880437 0.00002
NM_000169.3(GLA):c.1008C>T (p.Asn336=) rs901454780 0.00001
NM_000169.3(GLA):c.1050T>C (p.Ala350=) rs869312210 0.00001
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162 0.00001
NM_000169.3(GLA):c.1095T>C (p.Tyr365=) rs104894849 0.00001
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869 0.00001
NM_000169.3(GLA):c.1191T>C (p.Tyr397=) rs869312236 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.1233C>T (p.Gly411=) rs1555984746 0.00001
NM_000169.3(GLA):c.133C>T (p.Leu45=) rs143084761 0.00001
NM_000169.3(GLA):c.345T>C (p.His115=) rs782260908 0.00001
NM_000169.3(GLA):c.801+14C>T rs200744672 0.00001
NC_000023.10:g.(100656798_100658798)_(100658974_100662697)dup
NM_000169.2(GLA):c.-44C>G rs781906252
NM_000169.2(GLA):c.-79G>A rs1928609406
NM_000169.3(GLA):c.1000-14dup
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.3(GLA):c.1102G>C (p.Ala368Pro) rs144994244
NM_000169.3(GLA):c.1116_1117delinsAT (p.Gly373Cys) rs1928127475
NM_000169.3(GLA):c.1244T>G (p.Leu415Arg) rs112341092
NM_000169.3(GLA):c.138C>G (p.His46Gln) rs869312253
NM_000169.3(GLA):c.151A>G (p.Met51Val)
NM_000169.3(GLA):c.167G>T (p.Cys56Phe) rs869312258
NM_000169.3(GLA):c.178C>A (p.Pro60Thr) rs727504689
NM_000169.3(GLA):c.187T>C (p.Cys63Arg) rs1928578294
NM_000169.3(GLA):c.194+14G>C rs876657469
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.28C>T (p.Leu10=) rs727503073
NM_000169.3(GLA):c.369+5G>T rs398123209
NM_000169.3(GLA):c.370-81_370-77del rs5903184
NM_000169.3(GLA):c.370G>T (p.Val124Phe)
NM_000169.3(GLA):c.409G>T (p.Val137Phe) rs1928326653
NM_000169.3(GLA):c.485G>T (p.Trp162Leu) rs727504350
NM_000169.3(GLA):c.56T>A (p.Leu19Gln) rs1928592578
NM_000169.3(GLA):c.591C>T (p.Ser197=) rs898606246
NM_000169.3(GLA):c.592_603del (p.Ile198_Ser201del) rs1928284093
NM_000169.3(GLA):c.604T>C (p.Cys202Arg) rs1569303843
NM_000169.3(GLA):c.630C>T (p.Pro210=) rs727503071
NM_000169.3(GLA):c.639+852_639+855del rs782584102
NM_000169.3(GLA):c.639G>A (p.Lys213=) rs1928277930
NM_000169.3(GLA):c.640-336T>C
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.70T>A (p.Trp24Arg) rs397515871
NM_000169.3(GLA):c.721A>G (p.Ser241Gly) rs730880438
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.72G>C (p.Trp24Cys) rs869312392
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.829T>G (p.Trp277Gly) rs727504372
NM_000169.3(GLA):c.887T>A (p.Met296Lys) rs869312442
NM_000169.3(GLA):c.890C>A (p.Ser297Tyr) rs28935489
NM_000169.3(GLA):c.901C>G (p.Arg301Gly) rs398123224
NM_000169.3(GLA):c.913_945dup (p.Pro305_Asp315dup) rs2147471995
NM_000169.3(GLA):c.994_995delinsGA (p.Arg332Glu) rs1057518537

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.