ClinVar Miner

List of variants reported as pathogenic for Fabry disease by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	rs28935197	0.00001
NM_000169.3(GLA):c.374A>T (p.His125Leu)
NM_000169.3(GLA):c.383G>A (p.Gly128Glu)

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