ClinVar Miner

List of variants reported as likely benign for Hypoparathyroidism-retardation-dysmorphism syndrome

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_003193.5(TBCE):c.-93T>A rs114193373 0.00584
NM_003193.5(TBCE):c.101-5G>A rs113829976 0.00399
NM_003193.5(TBCE):c.214C>T (p.Pro72Ser) rs62620041 0.00297
NM_003193.5(TBCE):c.1400-14T>C rs150827657 0.00276
NM_003193.5(TBCE):c.191C>T (p.Pro64Leu) rs147489278 0.00135
NM_003193.5(TBCE):c.281G>A (p.Gly94Glu) rs148616786 0.00122
NM_003193.5(TBCE):c.1397C>T (p.Pro466Leu) rs114972093 0.00121
NM_003193.5(TBCE):c.585C>T (p.Ser195=) rs139440109 0.00120
NM_003193.5(TBCE):c.*108A>G rs78867315 0.00065
NM_003193.5(TBCE):c.1492-14C>T rs147400126 0.00041
NM_003193.5(TBCE):c.667C>T (p.Arg223Trp) rs75832955 0.00028

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