List of variants reported as likely pathogenic for Fabry disease by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser)	rs727504348
NM_000169.3(GLA):c.1157A>C (p.Gln386Pro)	rs797044775
NM_000169.3(GLA):c.386T>C (p.Leu129Pro)	rs727503072
NM_000169.3(GLA):c.427G>C (p.Ala143Pro)	rs104894845
NM_000169.3(GLA):c.613C>A (p.Pro205Thr)	rs397515870
NM_000169.3(GLA):c.717A>G (p.Ile239Met)	rs1928192530
NM_000169.3(GLA):c.802-3_804delinsGGCAACTTT	rs727504773

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