ClinVar Miner

List of variants reported as other by Invitae

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Total variants: 11
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HGVS dbSNP
NM_000137.2(FAH):c.1021C>T (p.Arg341Trp) rs11555096
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.3(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.4(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000181.3(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000203.4(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.4(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000203.4(IDUA):c.667G>A (p.Asp223Asn) rs183347428
NM_000487.5(ARSA):c.*96A>G rs6151429
NM_000520.5(HEXA):c.739C>T (p.Arg247Trp) rs121907970

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