ClinVar Miner

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

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

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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