ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 36 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001099922.3(ALG13):c.2066A>G (p.Tyr689Cys) rs1470650822 0.00001
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394

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