ClinVar Miner

List of variants reported as likely benign for Fabry disease by All of Us Research Program, National Institutes of Health

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.891T>C (p.Ser297=) rs782575087 0.00005
NM_000169.3(GLA):c.984G>T (p.Gly328=) rs376623208 0.00002
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.1207T>C (p.Leu403=) rs869312239 0.00001
NM_000169.3(GLA):c.133C>T (p.Leu45=) rs143084761 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.1017G>A (p.Val339=) rs869312212
NM_000169.3(GLA):c.1203A>G (p.Ser401=) rs2147470596
NM_000169.3(GLA):c.1206G>A (p.Arg402=)
NM_000169.3(GLA):c.1239T>C (p.Val413=) rs782058162
NM_000169.3(GLA):c.1266G>A (p.Gln422=) rs2147470421
NM_000169.3(GLA):c.18A>G (p.Pro6=)
NM_000169.3(GLA):c.237A>G (p.Glu79=) rs2147480859
NM_000169.3(GLA):c.370-12C>T
NM_000169.3(GLA):c.543A>G (p.Ala181=)
NM_000169.3(GLA):c.78C>T (p.Ile26=) rs869312405
NM_000169.3(GLA):c.819T>C (p.Phe273=)
NM_000169.3(GLA):c.972G>A (p.Leu324=)

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