ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as benign for Fabry disease

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Total variants: 9
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HGVS dbSNP
NM_000169.2(GLA):c.-10C>T rs2071225
NM_000169.2(GLA):c.-12G>A rs3027585
NM_000169.2(GLA):c.-30G>A rs3027584
NM_000169.2(GLA):c.1153A>G (p.Thr385Ala) rs397515869
NM_000169.2(GLA):c.129C>T (p.Gly43=) rs146177035
NM_000169.2(GLA):c.490G>T (p.Val164Leu) rs869312144
NM_000169.2(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.2(GLA):c.978G>A (p.Lys326=) rs151195362

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