ClinVar Miner

List of variants reported as uncertain significance for Infantile spasms by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000817.3(GAD1):c.80C>A (p.Thr27Lys) rs77655188 0.00015
NM_001323289.2(CDKL5):c.378C>G (p.Cys126Trp) rs1569213910

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