ClinVar Miner

List of variants reported as likely pathogenic for Hypoparathyroidism-retardation-dysmorphism syndrome; Autosomal recessive Kenny-Caffey syndrome by Hadassah Hebrew University Medical Center

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_003193.5(TBCE):c.355_356del (p.Ile119fs)	rs1572391840

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