ClinVar Miner

List of variants studied for Hypoparathyroidism-retardation-dysmorphism syndrome by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003193.5(TBCE):c.1113T>A (p.Cys371Ter)	rs121908384
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)	rs767004810
NM_003193.5(TBCE):c.66_67del (p.Val23fs)	rs1572324681

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