List of variants reported as uncertain significance for Fabry disease by Genome-Nilou Lab

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Total variants: 43

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HGVS	dbSNP	gnomAD frequency
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)	rs28935490	0.00308
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.1093T>A (p.Tyr365Asn)	rs367658155	0.00006
NM_000169.3(GLA):c.619T>C (p.Tyr207His)	rs372416832	0.00005
NM_000169.3(GLA):c.755G>C (p.Arg252Thr)	rs147026639	0.00005
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln)	rs869312163	0.00003
NM_000169.3(GLA):c.419A>C (p.Lys140Thr)	rs150228150	0.00003
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro)	rs886044779	0.00002
NM_000169.3(GLA):c.1192G>A (p.Glu398Lys)	rs104894844	0.00002
NM_000169.3(GLA):c.320A>G (p.Gln107Arg)	rs727505060	0.00002
NM_000169.3(GLA):c.457G>A (p.Asp153Asn)	rs370299397	0.00002
NM_000169.3(GLA):c.991C>T (p.Leu331Phe)	rs730880437	0.00002
NM_000169.3(GLA):c.1016T>C (p.Val339Ala)	rs869312211	0.00001
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)	rs869312162	0.00001
NM_000169.3(GLA):c.1127T>A (p.Val376Glu)	rs1555984793	0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)	rs782449839	0.00001
NM_000169.3(GLA):c.247G>A (p.Asp83Asn)	rs782722577	0.00001
NM_000169.3(GLA):c.32G>T (p.Gly11Val)	rs782498765	0.00001
NM_000169.3(GLA):c.43G>A (p.Ala15Thr)	rs869312303	0.00001
NM_000169.3(GLA):c.596T>C (p.Val199Ala)	rs781871113	0.00001
NM_000169.3(GLA):c.724A>G (p.Ile242Val)	rs397515873	0.00001
NM_000169.3(GLA):c.73G>A (p.Asp25Asn)	rs781788693	0.00001
NM_000169.3(GLA):c.1046G>C (p.Trp349Ser)	rs869312218
NM_000169.3(GLA):c.132G>T (p.Trp44Cys)	rs398123202
NM_000169.3(GLA):c.239G>A (p.Gly80Asp)	rs781838005
NM_000169.3(GLA):c.265C>T (p.Leu89Phe)	rs1555986305
NM_000169.3(GLA):c.369+5G>T	rs398123209
NM_000169.3(GLA):c.400T>G (p.Tyr134Asp)	rs727503951
NM_000169.3(GLA):c.475T>C (p.Phe159Leu)	rs1928321516
NM_000169.3(GLA):c.490G>T (p.Val164Leu)	rs869312144
NM_000169.3(GLA):c.525C>A (p.Asp175Glu)	rs782722844
NM_000169.3(GLA):c.569C>G (p.Ala190Gly)	rs2147476120
NM_000169.3(GLA):c.659G>A (p.Arg220Gln)	rs869312378
NM_000169.3(GLA):c.695T>G (p.Ile232Ser)	rs797044749
NM_000169.3(GLA):c.70T>A (p.Trp24Arg)	rs397515871
NM_000169.3(GLA):c.842_844del (p.Val281_Thr282delinsAla)	rs1555985004
NM_000169.3(GLA):c.85G>T (p.Ala29Ser)	rs142449183
NM_000169.3(GLA):c.871G>T (p.Ala291Ser)	rs869312439
NM_000169.3(GLA):c.926C>T (p.Ala309Val)	rs869312155
NM_000169.3(GLA):c.967C>A (p.Pro323Thr)	rs147737890
NM_000169.3(GLA):c.973G>A (p.Gly325Ser)	rs398123227
NM_000169.3(GLA):c.994_995delinsGA (p.Arg332Glu)	rs1057518537

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