ClinVar Miner

List of variants reported as likely pathogenic for Epileptic encephalopathy, early infantile, 25

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Total variants: 4
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NM_177550.4(SLC13A5):c.1156+1G>A rs1555541483
NM_177550.4(SLC13A5):c.1463T>C (p.Leu488Pro) rs587777578
NM_177550.4(SLC13A5):c.425C>T (p.Thr142Met) rs761917087
NM_177550.4(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569

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