ClinVar Miner

List of variants reported as likely pathogenic for DOORS syndrome; Familial infantile myoclonic epilepsy; Developmental and epileptic encephalopathy, 16 by UCLA Clinical Genomics Center, UCLA

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_020705.2(TBC1D24):c.[1218G>C];[1270T>C]

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