ClinVar Miner

List of variants in gene combination ATP6V1G2-DDX39B, DDX39B reported as uncertain significance for Neurodevelopmental disorder

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004640.7(DDX39B):c.109G>T (p.Gly37Cys) rs2481452992
NM_004640.7(DDX39B):c.132C>G (p.Ser44Arg) rs763394152
NM_004640.7(DDX39B):c.275G>A (p.Gly92Asp) rs2481439394
NM_004640.7(DDX39B):c.368G>A (p.Arg123Gln) rs2481434228
NM_004640.7(DDX39B):c.433-1G>T rs2481412217

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