ClinVar Miner

List of variants reported for Immunodeficiency-centromeric instability-facial anomalies syndrome 1; Facioscapulohumeral muscular dystrophy 4, digenic by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu) rs147945634 0.00185
NM_006892.4(DNMT3B):c.1490+8C>G rs746731138 0.00001
NM_006892.4(DNMT3B):c.1543G>A (p.Glu515Lys) rs747146892 0.00001

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