ClinVar Miner

List of variants studied for Fabry disease by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 57
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HGVS dbSNP
GLA, 1-BP DEL, NT716
GLA, 1-BP INS, NT1040
GLA, 2-BP DEL, NT1176
GLA, 2-BP DEL, NT773
GLA, EX1-2DEL
GLA, EX2-6DUP
GLA, EX3-4DEL
GLA, EX3-7DEL
GLA, EX3DEL
GLA, EX4DEL
GLA, EX6-7DEL
GLA, IVS5AS, DEL -2,-3
GLA, IVS6DS, G-T, +1
NM_000169.2(GLA):c.1017_1027del (p.Trp340fs)
NM_000169.2(GLA):c.101A>G (p.Asn34Ser) rs104894835
NM_000169.2(GLA):c.1020G>A (p.Trp340Ter) rs104894842
NM_000169.2(GLA):c.1024C>T (p.Arg342Ter) rs104894843
NM_000169.2(GLA):c.1025G>A (p.Arg342Gln) rs28935493
NM_000169.2(GLA):c.1066C>T (p.Arg356Trp) rs104894827
NM_000169.2(GLA):c.1081G>C (p.Gly361Arg) rs28935494
NM_000169.2(GLA):c.1095T>A (p.Tyr365Ter) rs104894849
NM_000169.2(GLA):c.1124_1176del (p.Gly375fs)
NM_000169.2(GLA):c.1147_1149del (p.Phe383del) rs1057519609
NM_000169.2(GLA):c.118C>T (p.Pro40Ser) rs104894831
NM_000169.2(GLA):c.1192G>T (p.Glu398Ter) rs104894844
NM_000169.2(GLA):c.1209_1211AAG[1] (p.Arg404del)
NM_000169.2(GLA):c.1228A>G (p.Thr410Ala) rs104894852
NM_000169.2(GLA):c.125_137del (p.Met42fs)
NM_000169.2(GLA):c.1277_1278del (p.Lys426fs)
NM_000169.2(GLA):c.1280_1283ACTT[1] (p.Leu428fs)
NM_000169.2(GLA):c.131G>A (p.Trp44Ter) rs104894829
NM_000169.2(GLA):c.166T>G (p.Cys56Gly) rs104894836
NM_000169.2(GLA):c.194G>C (p.Ser65Thr) rs104894848
NM_000169.2(GLA):c.369+2T>G rs387906483
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.2(GLA):c.436C>T (p.Pro146Ser) rs104894837
NM_000169.2(GLA):c.466G>A (p.Ala156Thr) rs28935195
NM_000169.2(GLA):c.484T>C (p.Trp162Arg) rs28935196
NM_000169.2(GLA):c.606T>G (p.Cys202Trp) rs104894838
NM_000169.2(GLA):c.644A>G (p.Asn215Ser) rs28935197
NM_000169.2(GLA):c.666C>A (p.Tyr222Ter) rs104894851
NM_000169.2(GLA):c.679C>T (p.Arg227Ter) rs104894841
NM_000169.2(GLA):c.680G>A (p.Arg227Gln) rs104894840
NM_000169.2(GLA):c.791A>T (p.Asp264Val) rs28935486
NM_000169.2(GLA):c.797A>T (p.Asp266Val) rs28935487
NM_000169.2(GLA):c.806T>C (p.Val269Ala) rs28935488
NM_000169.2(GLA):c.815A>G (p.Asn272Ser) rs28935495
NM_000169.2(GLA):c.861G>A (p.Trp287Ter) rs104894839
NM_000169.2(GLA):c.890C>T (p.Ser297Phe) rs28935489
NM_000169.2(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.2(GLA):c.950_954dup (p.Ile319fs)
NM_000169.2(GLA):c.979C>A (p.Gln327Lys) rs28935491
NM_000169.2(GLA):c.982G>A (p.Gly328Arg) rs104894832
NM_000169.2(GLA):c.983G>C (p.Gly328Ala) rs28935492
NM_000169.2(GLA):c.[196G>C;334C>T]

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