ClinVar Miner

List of variants in gene CDKL5 reported as benign by Ambry Genetics

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Gene type:
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Total variants: 5
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HGVS dbSNP
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225
NM_003159.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977

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