ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 64 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_015178.3(RHOBTB2):c.779T>C (p.Leu260Pro) rs1018003807 0.00001
NM_015178.3(RHOBTB2):c.1216A>G (p.Thr406Ala) rs2128804901
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663

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