ClinVar Miner

List of variants reported as benign for Hypoparathyroidism-retardation-dysmorphism syndrome by Illumina Laboratory Services, Illumina

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003193.5(TBCE):c.560+5G>A rs12757197 0.13398
NM_003193.5(TBCE):c.*142T>A rs7537 0.13128
NM_003193.5(TBCE):c.1068A>G (p.Leu356=) rs6666168 0.04346
NM_003193.5(TBCE):c.-49T>C rs55980101 0.03537
NM_003193.5(TBCE):c.100+13T>G rs199696216 0.03115
NM_003193.5(TBCE):c.614T>C (p.Val205Ala) rs16832611 0.02475
NM_003193.5(TBCE):c.1226A>G (p.Glu409Gly) rs16832619 0.02446
NM_003193.5(TBCE):c.998G>C (p.Ser333Thr) rs35579976 0.01018
NM_003193.5(TBCE):c.1050A>G (p.Glu350=) rs35663526 0.00725

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