ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 16 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.1282G>A (p.Gly428Arg) rs2065776554 0.00001
NM_001199107.2(TBC1D24):c.1143G>T (p.Arg381Ser)
NM_001199107.2(TBC1D24):c.571T>C (p.Cys191Arg) rs2505514774

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