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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 185

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HGVS	dbSNP	gnomAD frequency
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.123C>T (p.Thr41=)	rs137902198	0.00017
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.891T>C (p.Ser297=)	rs782575087	0.00005
NM_000169.3(GLA):c.1000-14T>C	rs397515868	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.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.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.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.225C>T (p.Leu75=)	rs869312267	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.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.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.1000-4T>G
NM_000169.3(GLA):c.1000-9G>A	rs1928143594
NM_000169.3(GLA):c.1017G>A (p.Val339=)	rs869312212
NM_000169.3(GLA):c.1038C>T (p.Gly346=)	rs1928138032
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.1110T>C (p.Ala370=)
NM_000169.3(GLA):c.1113C>T (p.Ser371=)	rs2147470888
NM_000169.3(GLA):c.1128G>A (p.Val376=)
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>A
NM_000169.3(GLA):c.194+14G>C	rs876657469
NM_000169.3(GLA):c.194+15G>A
NM_000169.3(GLA):c.194+18C>G
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+16A>C
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.396G>T (p.Gly132=)
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.529T>C (p.Leu177=)
NM_000169.3(GLA):c.540G>A (p.Leu180=)
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.548-14G>T
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.564C>G (p.Ser188=)
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.591C>T (p.Ser197=)	rs898606246
NM_000169.3(GLA):c.600C>T (p.Tyr200=)
NM_000169.3(GLA):c.60C>T (p.Ala20=)
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.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.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+19C>T
NM_000169.3(GLA):c.801+7A>G
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.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.882A>G (p.Leu294=)
NM_000169.3(GLA):c.903A>G (p.Arg301=)	rs1555984973
NM_000169.3(GLA):c.915T>G (p.Pro305=)
NM_000169.3(GLA):c.918A>G (p.Gln306=)
NM_000169.3(GLA):c.921C>T (p.Ala307=)
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+12_999+13insCATCTTAAA
NM_000169.3(GLA):c.999+18_999+22del
NM_000169.3(GLA):c.999+19T>C
NM_000169.3(GLA):c.999+19_999+21del
NM_000169.3(GLA):c.999+7A>C

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