ClinVar Miner

List of variants reported as benign for Fabry disease by Invitae

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.640-16A>G rs2071397 0.12447
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_019597.5(HNRNPH2):c.-54+353C>G rs3027580 0.06337
NM_000169.2(GLA):c.-30G>A rs3027584 0.00873
NM_000169.3(GLA):c.194+17A>G rs2071226 0.00379
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362 0.00100
NM_000169.3(GLA):c.639+18G>A rs189319122 0.00087
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035 0.00018
NM_000169.3(GLA):c.369+15A>G
NM_000169.3(GLA):c.639+10_639+13del rs782473708
NM_000169.3(GLA):c.801+7dup

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