ClinVar Miner

List of variants in gene FGG reported as likely pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_021870.3(FGG):c.140C>T (p.Thr47Ile) rs138511699 0.00050
NM_021870.3(FGG):c.1099G>A (p.Ala367Thr) rs78257946 0.00004
NM_021870.3(FGG):c.677G>T (p.Gly226Val) rs1310452604 0.00001
NM_021870.3(FGG):c.78+5G>A rs587776837
NM_021870.3(FGG):c.963del (p.Phe321fs) rs1414035000

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