ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
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.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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