ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 31A by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004408.4(DNM1):c.2156C>T (p.Ala719Val) rs1432815882
NM_004408.4(DNM1):c.2510A>C (p.Asn837Thr)

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