ClinVar Miner

List of variants studied for autosomal recessive Kenny-Caffey syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003193.5(TBCE):c.100+1G>A rs200356271 0.00009
NM_003193.5(TBCE):c.143_144del (p.Lys48fs) rs758937799 0.00003
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_003193.5(TBCE):c.1491_1491+4dup rs746593718
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003193.5(TBCE):c.355_356del (p.Ile119fs) rs1572391840
NM_003193.5(TBCE):c.786T>G (p.Asn262Lys)
NM_003193.5(TBCE):c.898+6T>C rs759799813

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