ClinVar Miner

List of variants in gene CDKL5 reported by Baylor Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln) rs1926294168 0.00001
NM_001323289.2(CDKL5):c.743G>A (p.Arg248Gln) rs1064795857 0.00001
NM_001323289.2(CDKL5):c.2375C>G (p.Thr792Arg)
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs) rs1555955290
NM_001323289.2(CDKL5):c.409A>G (p.Lys137Glu) rs1569214324
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg) rs1602272932
NM_001323289.2(CDKL5):c.818T>C (p.Leu273Pro) rs1569217205
NM_001323289.2(CDKL5):c.868C>T (p.Gln290Ter) rs1569218019

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