List of variants reported as likely pathogenic for Fabry disease by 3billion, Medical Genetics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000169.3(GLA):c.1145G>C (p.Cys382Ser)
NM_000169.3(GLA):c.135_142del (p.His46fs)	rs2147487148
NM_000169.3(GLA):c.170A>C (p.Gln57Pro)	rs869312260
NM_000169.3(GLA):c.178C>T (p.Pro60Ser)	rs727504689
NM_000169.3(GLA):c.195-2A>G	rs2147480960
NM_000169.3(GLA):c.195-89_712del
NM_000169.3(GLA):c.559A>G (p.Met187Val)	rs869312340
NM_000169.3(GLA):c.656T>C (p.Ile219Thr)	rs2147473404
NM_000169.3(GLA):c.708G>A (p.Trp236Ter)	rs869312386
NM_000169.3(GLA):c.717A>G (p.Ile239Met)	rs1928192530
NM_000169.3(GLA):c.779G>T (p.Gly260Val)
NM_000169.3(GLA):c.781G>T (p.Gly261Cys)

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