ClinVar Miner

List of variants studied for Autosomal recessive Kenny-Caffey syndrome

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003193.5(TBCE):c.100+1G>A rs200356271 0.00009
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.786T>G (p.Asn262Lys)

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