ClinVar Miner

List of variants reported as likely benign for Fabry disease by Invitae

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Total variants: 13
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HGVS dbSNP
NM_000169.2(GLA):c.1153A>G (p.Thr385Ala) rs397515869
NM_000169.2(GLA):c.33C>T (p.Gly11=) rs781856890
NM_000169.2(GLA):c.369T>C (p.Tyr123=) rs869312282
NM_000169.2(GLA):c.402T>C (p.Tyr134=) rs1183869568
NM_000169.2(GLA):c.416A>G (p.Asn139Ser) rs138886989
NM_000169.2(GLA):c.48T>G (p.Leu16=) rs201449986
NM_000169.2(GLA):c.591C>T (p.Ser197=) rs898606246
NM_000169.2(GLA):c.640-11T>C rs782634293
NM_000169.2(GLA):c.6G>A (p.Gln2=) rs782748047
NM_000169.2(GLA):c.714T>C (p.Ser238=) rs397515872
NM_000169.2(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.2(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000169.2(GLA):c.945C>T (p.Asp315=) rs151208856

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