ClinVar Miner

List of variants in gene TBCE reported as pathogenic for autosomal recessive Kenny-Caffey syndrome

Included ClinVar conditions (3):

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)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003193.5(TBCE):c.100+1G>A	rs200356271	0.00009
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)	rs767004810

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