ClinVar Miner

List of variants studied for Kenny-Caffey syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_001142519.3(FAM111A):c.1531T>C (p.Tyr511His) rs587777012
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His) rs587777011
NM_003193.4(TBCE):c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del) rs767004810
NM_003193.5(TBCE):c.100+1G>A rs200356271
NM_003193.5(TBCE):c.143_144del (p.Lys48fs) rs758937799
NM_003193.5(TBCE):c.355_356del (p.Ile119fs) rs1572391840

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