ClinVar Miner

List of variants reported for EEG abnormality by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) rs150233690 0.00062
NM_001080.3(ALDH5A1):c.1421A>C (p.Asp474Ala) rs142482046 0.00060
NM_000815.5(GABRD):c.775G>A (p.Val259Ile) rs148908731 0.00042

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