List of variants in gene TBCE reported as pathogenic for Hypoparathyroidism-retardation-dysmorphism syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003193.5(TBCE):c.1113T>A (p.Cys371Ter)	rs121908384
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)	rs767004810
NM_003193.5(TBCE):c.66_67del (p.Val23fs)	rs1572324681
Single allele

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