ClinVar Miner

List of variants in gene CDKL5 studied for Inborn genetic diseases

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Total variants: 6
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HGVS dbSNP
NM_003159.2(CDKL5):c.1107_1120del14 (p.Asn370Terfs) rs1555951954
NM_003159.2(CDKL5):c.1211_1212dupAC (p.Leu405Thrfs) rs1555951981
NM_003159.2(CDKL5):c.1247_1248delAG (p.Glu416Valfs) rs786204967
NM_003159.2(CDKL5):c.2152+1G>A rs1555952732
NM_003159.2(CDKL5):c.514G>A (p.Val172Ile) rs797044858
NM_003159.2(CDKL5):c.656A>C (p.Gln219Pro) rs786204963

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