ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 12 by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NC_000020.10:g.(8094049_8094072)_(8580261_8580284)del
NM_139318.5(KCNH5):c.1388T>C (p.Ile463Thr) rs2502867283
NM_139318.5(KCNH5):c.1402A>C (p.Thr468Pro) rs1294653855
NM_139318.5(KCNH5):c.1412T>C (p.Phe471Ser) rs2502867213
NM_139318.5(KCNH5):c.2020-4A>G rs2502654819
NM_139318.5(KCNH5):c.980G>A (p.Arg327His) rs587777164
NM_139318.5(KCNH5):c.998G>A (p.Arg333His) rs1383017734

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