ClinVar Miner

List of variants reported as uncertain significance for Developmental and epileptic encephalopathy, 29 by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001605.3(AARS1):c.887G>A (p.Arg296Gln)	rs1375611364	0.00001
NM_001605.3(AARS1):c.287C>T (p.Thr96Ile)	rs1194157733

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