ClinVar Miner

List of variants reported as benign for Immunodeficiency-centromeric instability-facial anomalies syndrome 2 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_014797.3(ZBTB24):c.1701C>T (p.Pro567=) rs2232449 0.02940
NM_014797.3(ZBTB24):c.1389C>G (p.Ser463=) rs2232447 0.01949
NM_014797.3(ZBTB24):c.146G>A (p.Arg49Gln) rs147441359 0.00624
NM_014797.3(ZBTB24):c.952+56ATA[2] rs76933246
NM_014797.3(ZBTB24):c.953-20T>A rs117893130

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