ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_003193.5(TBCE):c.143_144del (p.Lys48fs) rs758937799
NM_003193.5(TBCE):c.355_356del (p.Ile119fs) rs1572391840

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