ClinVar Miner

List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 26 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_004975.4(KCNB1):c.629C>T (p.Thr210Met)	rs1555889162
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)	rs1984264748
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)	rs1555889130

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