ClinVar Miner

List of variants reported for developmental delay with seizures by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_000314.8(PTEN):c.30C>G (p.Ser10Arg) rs1564801689
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu) rs772837341
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721

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