ClinVar Miner

List of variants in gene TBCE reported as uncertain significance for Hypoparathyroidism-retardation-dysmorphism syndrome; Autosomal recessive Kenny-Caffey syndrome; Encephalopathy, progressive, with amyotrophy and optic atrophy

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003193.5(TBCE):c.581C>T (p.Pro194Leu) rs182268162 0.00003
NM_003193.5(TBCE):c.71G>A (p.Arg24His) rs766386026 0.00003
NM_003193.5(TBCE):c.898+6T>C rs759799813

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