ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as likely benign for Fabry disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 198
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NC_000023.11:g.101407933C>T rs3027584 0.00873
NM_000169.2(GLA):c.-125T>G rs185255090 0.00585
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
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.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000169.3(GLA):c.-44C>T rs781906252 0.00025
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.755G>C (p.Arg252Thr) rs147026639 0.00005
NM_000169.3(GLA):c.891T>C (p.Ser297=) rs782575087 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.802-6T>G rs782529392 0.00004
NM_000169.3(GLA):c.416A>G (p.Asn139Ser) rs138886989 0.00003
NM_000169.3(GLA):c.474C>T (p.Thr158=) rs782615630 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.192C>T (p.Ile64=) rs1555987080 0.00002
NM_000169.3(GLA):c.195T>C (p.Ser65=) rs782803696 0.00002
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000169.3(GLA):c.402T>C (p.Tyr134=) rs1183869568 0.00002
NM_000169.3(GLA):c.465T>C (p.Asp155=) rs782197072 0.00002
NM_000169.3(GLA):c.501A>T (p.Leu167=) rs782486830 0.00002
NM_000169.3(GLA):c.547+8T>C rs1228378943 0.00002
NM_000169.3(GLA):c.963G>A (p.Gln321=) rs1001403373 0.00002
NM_000169.3(GLA):c.984G>T (p.Gly328=) rs376623208 0.00002
NM_000169.3(GLA):c.1008C>T (p.Asn336=) rs901454780 0.00001
NM_000169.3(GLA):c.1041A>G (p.Leu347=) rs1555984853 0.00001
NM_000169.3(GLA):c.1050T>C (p.Ala350=) rs869312210 0.00001
NM_000169.3(GLA):c.1060A>G (p.Ile354Val) rs782200316 0.00001
NM_000169.3(GLA):c.1095T>C (p.Tyr365=) rs104894849 0.00001
NM_000169.3(GLA):c.1098C>T (p.Thr366=) rs1207270634 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.1207T>C (p.Leu403=) rs869312239 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.177G>A (p.Glu59=) rs782188157 0.00001
NM_000169.3(GLA):c.194+6A>G rs1463398466 0.00001
NM_000169.3(GLA):c.225C>T (p.Leu75=) rs869312267 0.00001
NM_000169.3(GLA):c.239G>C (p.Gly80Ala) rs781838005 0.00001
NM_000169.3(GLA):c.26A>G (p.His9Arg) rs1555987214 0.00001
NM_000169.3(GLA):c.330T>G (p.Pro110=) rs781967285 0.00001
NM_000169.3(GLA):c.33C>T (p.Gly11=) rs781856890 0.00001
NM_000169.3(GLA):c.345T>C (p.His115=) rs782260908 0.00001
NM_000169.3(GLA):c.369T>C (p.Tyr123=) rs869312282 0.00001
NM_000169.3(GLA):c.426C>T (p.Cys142=) rs1421866281 0.00001
NM_000169.3(GLA):c.597G>A (p.Val199=) rs1555985551 0.00001
NM_000169.3(GLA):c.61C>T (p.Leu21Phe) rs782164084 0.00001
NM_000169.3(GLA):c.639+7T>C rs1555985507 0.00001
NM_000169.3(GLA):c.640-11T>C rs782634293 0.00001
NM_000169.3(GLA):c.705C>T (p.Ser235=) rs147672853 0.00001
NM_000169.3(GLA):c.727T>C (p.Leu243=) rs782453201 0.00001
NM_000169.3(GLA):c.768T>C (p.Val256=) rs781872759 0.00001
NM_000169.3(GLA):c.801+14C>T rs200744672 0.00001
NM_000169.3(GLA):c.834T>C (p.Asn278=) rs782032720 0.00001
NM_000169.3(GLA):c.894T>C (p.Asn298=) rs869312444 0.00001
NM_000169.3(GLA):c.-15C>T rs782422036
NM_000169.3(GLA):c.1000-10G>C rs869312203
NM_000169.3(GLA):c.1000-14dup
NM_000169.3(GLA):c.1000-15T>C
NM_000169.3(GLA):c.1000-17C>T
NM_000169.3(GLA):c.1000-18_1000-17del
NM_000169.3(GLA):c.1000-9G>A rs1928143594
NM_000169.3(GLA):c.1017G>A (p.Val339=) rs869312212
NM_000169.3(GLA):c.1066C>A (p.Arg356=) rs104894827
NM_000169.3(GLA):c.1101C>T (p.Ile367=) rs1928129537
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.1110T>C (p.Ala370=)
NM_000169.3(GLA):c.1113C>T (p.Ser371=) rs2147470888
NM_000169.3(GLA):c.111A>C (p.Ala37=) rs1928586427
NM_000169.3(GLA):c.1140T>G (p.Pro380=)
NM_000169.3(GLA):c.1161C>G (p.Leu387=) rs2147470731
NM_000169.3(GLA):c.1167T>C (p.Pro389=)
NM_000169.3(GLA):c.1179G>A (p.Lys393=) rs2147470688
NM_000169.3(GLA):c.1203A>G (p.Ser401=) rs2147470596
NM_000169.3(GLA):c.1236T>C (p.Thr412=)
NM_000169.3(GLA):c.1239T>C (p.Val413=) rs782058162
NM_000169.3(GLA):c.1242G>A (p.Leu414=)
NM_000169.3(GLA):c.1266G>A (p.Gln422=) rs2147470421
NM_000169.3(GLA):c.1290A>G (p.Ter430=) rs1555984712
NM_000169.3(GLA):c.12G>A (p.Arg4=) rs2147487858
NM_000169.3(GLA):c.162T>G (p.Leu54=) rs2147487084
NM_000169.3(GLA):c.174A>G (p.Glu58=) rs2147487025
NM_000169.3(GLA):c.18A>G (p.Pro6=)
NM_000169.3(GLA):c.194+14G>C rs876657469
NM_000169.3(GLA):c.194+15G>A
NM_000169.3(GLA):c.194+7G>A
NM_000169.3(GLA):c.195-16G>A
NM_000169.3(GLA):c.195-8T>C
NM_000169.3(GLA):c.195-8_195-3del
NM_000169.3(GLA):c.195-9C>T
NM_000169.3(GLA):c.201G>A (p.Lys67=) rs2147480934
NM_000169.3(GLA):c.213G>A (p.Glu71=) rs886039140
NM_000169.3(GLA):c.237A>G (p.Glu79=) rs2147480859
NM_000169.3(GLA):c.249T>C (p.Asp83=) rs2147480812
NM_000169.3(GLA):c.24A>G (p.Leu8=) rs1928599053
NM_000169.3(GLA):c.252A>G (p.Ala84=) rs2147480805
NM_000169.3(GLA):c.258T>C (p.Tyr86=) rs2147480777
NM_000169.3(GLA):c.28C>T (p.Leu10=) rs727503073
NM_000169.3(GLA):c.291T>C (p.Ala97=) rs2147480661
NM_000169.3(GLA):c.297A>G (p.Gln99=)
NM_000169.3(GLA):c.303T>C (p.Asp101=) rs2147480621
NM_000169.3(GLA):c.318T>A (p.Leu106=) rs2147480581
NM_000169.3(GLA):c.327C>T (p.Asp109=)
NM_000169.3(GLA):c.348G>C (p.Gly116=) rs1928402060
NM_000169.3(GLA):c.369+11A>G
NM_000169.3(GLA):c.369+7T>A rs2147480373
NM_000169.3(GLA):c.370-10C>G
NM_000169.3(GLA):c.370-12C>T
NM_000169.3(GLA):c.370-19_370-18del rs869312286
NM_000169.3(GLA):c.370-9T>A
NM_000169.3(GLA):c.370-9T>C
NM_000169.3(GLA):c.375C>T (p.His125=) rs2147477873
NM_000169.3(GLA):c.378C>T (p.Ser126=) rs2147477850
NM_000169.3(GLA):c.39G>A (p.Ala13=)
NM_000169.3(GLA):c.432C>A (p.Gly144=) rs2147477673
NM_000169.3(GLA):c.456C>T (p.Tyr152=) rs1555985827
NM_000169.3(GLA):c.45G>C (p.Ala15=) rs1928594327
NM_000169.3(GLA):c.462T>C (p.Ile154=) rs1928322888
NM_000169.3(GLA):c.480T>A (p.Ala160=)
NM_000169.3(GLA):c.48T>C (p.Leu16=)
NM_000169.3(GLA):c.496C>T (p.Leu166=)
NM_000169.3(GLA):c.525C>G (p.Asp175Glu) rs782722844
NM_000169.3(GLA):c.540G>A (p.Leu180=)
NM_000169.3(GLA):c.543A>G (p.Ala181=)
NM_000169.3(GLA):c.547+17G>C
NM_000169.3(GLA):c.547+9T>A rs869312323
NM_000169.3(GLA):c.548-14G>A
NM_000169.3(GLA):c.548-16T>C rs869312327
NM_000169.3(GLA):c.548-5T>A
NM_000169.3(GLA):c.548-7C>T rs2147476255
NM_000169.3(GLA):c.548-8T>C rs2147476264
NM_000169.3(GLA):c.548-9C>T rs869312339
NM_000169.3(GLA):c.570C>A (p.Ala190=)
NM_000169.3(GLA):c.573G>C (p.Leu191=)
NM_000169.3(GLA):c.576T>C (p.Asn192=) rs2147476101
NM_000169.3(GLA):c.57G>A (p.Leu19=)
NM_000169.3(GLA):c.585C>T (p.Gly195=) rs1928285510
NM_000169.3(GLA):c.591C>T (p.Ser197=) rs898606246
NM_000169.3(GLA):c.600C>T (p.Tyr200=)
NM_000169.3(GLA):c.639+13G>A rs2147475721
NM_000169.3(GLA):c.639+15C>T
NM_000169.3(GLA):c.639+18G>C rs189319122
NM_000169.3(GLA):c.639+9G>A rs2147475743
NM_000169.3(GLA):c.63C>G (p.Leu21=) rs869312361
NM_000169.3(GLA):c.63C>T (p.Leu21=) rs869312361
NM_000169.3(GLA):c.640-12C>G
NM_000169.3(GLA):c.640-14_640-13del
NM_000169.3(GLA):c.640-16A>C
NM_000169.3(GLA):c.640-16A>T rs2071397
NM_000169.3(GLA):c.640-19G>A
NM_000169.3(GLA):c.640-811_640-798del rs869312370
NM_000169.3(GLA):c.648T>C (p.Tyr216=) rs869312377
NM_000169.3(GLA):c.679C>A (p.Arg227=) rs104894841
NM_000169.3(GLA):c.690T>C (p.Ala230=) rs869312385
NM_000169.3(GLA):c.696T>C (p.Ile232=)
NM_000169.3(GLA):c.699T>C (p.Asp233=)
NM_000169.3(GLA):c.720G>A (p.Lys240=)
NM_000169.3(GLA):c.78C>T (p.Ile26=) rs869312405
NM_000169.3(GLA):c.798T>C (p.Asp266=)
NM_000169.3(GLA):c.801+10T>G rs1603038845
NM_000169.3(GLA):c.801+11G>A
NM_000169.3(GLA):c.801+11G>C rs782692856
NM_000169.3(GLA):c.801+13G>A
NM_000169.3(GLA):c.801+15C>A rs1191412478
NM_000169.3(GLA):c.801+16C>T
NM_000169.3(GLA):c.801+9T>C
NM_000169.3(GLA):c.802-10T>G rs1928176118
NM_000169.3(GLA):c.807G>A (p.Val269=) rs2147472497
NM_000169.3(GLA):c.819T>C (p.Phe273=)
NM_000169.3(GLA):c.81T>C (p.Pro27=) rs2147487477
NM_000169.3(GLA):c.822C>T (p.Gly274=) rs1928174281
NM_000169.3(GLA):c.840A>G (p.Gln280=)
NM_000169.3(GLA):c.858C>T (p.Leu286=) rs869312428
NM_000169.3(GLA):c.867C>T (p.Ile289=)
NM_000169.3(GLA):c.873T>C (p.Ala291=)
NM_000169.3(GLA):c.876T>C (p.Ala292=)
NM_000169.3(GLA):c.903A>G (p.Arg301=) rs1555984973
NM_000169.3(GLA):c.906C>T (p.His302=) rs1928165990
NM_000169.3(GLA):c.915T>C (p.Pro305=) rs782250167
NM_000169.3(GLA):c.915T>G (p.Pro305=)
NM_000169.3(GLA):c.918A>G (p.Gln306=)
NM_000169.3(GLA):c.972G>A (p.Leu324=)
NM_000169.3(GLA):c.984G>A (p.Gly328=)
NM_000169.3(GLA):c.987C>T (p.Tyr329=) rs1928158109
NM_000169.3(GLA):c.999+12T>C
NM_000169.3(GLA):c.999+18_999+22del
NM_000169.3(GLA):c.999+19T>C
NM_000169.3(GLA):c.999+7A>C

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