ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 31A by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004408.4(DNM1):c.2076+4C>T rs374379668 0.00001
NM_004408.4(DNM1):c.386-8C>T rs764950748 0.00001
NM_004408.4(DNM1):c.395T>G (p.Leu132Arg)
NM_004408.4(DNM1):c.465_467dup (p.Gln155_Ile156insMet) rs1057518655

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