ClinVar Miner

List of variants reported as uncertain significance for Kenny-Caffey syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_003193.5(TBCE):c.581C>T (p.Pro194Leu) rs182268162 0.00003
NM_003193.5(TBCE):c.71G>A (p.Arg24His) rs766386026 0.00003
NM_001312909.2(FAM111A):c.1408C>T (p.His470Tyr)
NM_001312909.2(FAM111A):c.1531T>C (p.Tyr511His) rs587777012
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His) rs587777011
NM_003193.5(TBCE):c.1491_1491+4dup rs746593718
NM_003193.5(TBCE):c.786T>G (p.Asn262Lys)
NM_003193.5(TBCE):c.898+6T>C rs759799813

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