ClinVar Miner

List of variants in gene CDKL5 reported as benign by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150 0.03249
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957 0.00451
NM_001323289.2(CDKL5):c.145+17A>G rs199814742 0.00355
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225 0.00099
NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=) rs139329419 0.00033
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148 0.00029
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=) rs148697943 0.00018

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