ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported as uncertain significance for Early infantile epileptic encephalopathy 2; Angelman syndrome-like

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Total variants: 18
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HGVS dbSNP
NC_000023.11:g.(?_18564457)_(18653564_?)dup
NC_000023.11:g.(?_18653412)_(18653564_?)del
NM_000330.3(RS1):c.184+3158_184+3167del rs1363899499
NM_000330.4(RS1):c.184+3119G>A rs762576315
NM_000330.4(RS1):c.184+3136A>T
NM_000330.4(RS1):c.184+3170G>A
NM_000330.4(RS1):c.184+3231A>C
NM_000330.4(RS1):c.185-3128G>A
NM_000330.4(RS1):c.185-3212G>A
NM_000330.4(RS1):c.185-3221G>A
NM_000330.4(RS1):c.185-3261C>T
NM_000330.4(RS1):c.326+1106del
NM_000330.4(RS1):c.326+1151T>C
NM_003159.2(CDKL5):c.2716G>A (p.Gly906Ser) rs369009993
NM_003159.2(CDKL5):c.2739G>C (p.Gln913His) rs587783160
NM_003159.2(CDKL5):c.2783C>T (p.Thr928Met) rs951430019
NM_003159.2(CDKL5):c.2908C>T (p.Arg970Ter) rs267608665
NM_003159.2(CDKL5):c.2941C>G (p.Arg981Gly) rs374054249

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