ClinVar Miner

List of variants in gene TBCE reported as likely pathogenic for Hypoparathyroidism-retardation-dysmorphism syndrome; Autosomal recessive Kenny-Caffey syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003193.5(TBCE):c.143_144del (p.Lys48fs)	rs758937799	0.00003
NM_003193.5(TBCE):c.355_356del (p.Ile119fs)	rs1572391840

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