ClinVar Miner

List of variants in gene CDKL5 reported as benign by RettBASE

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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.2376+118T>A rs3752484 0.44413
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.2046+79G>A rs147819758 0.02285
NM_001323289.2(CDKL5):c.145+17A>G rs199814742 0.00355
NM_003159.2(CDKL5):c.-265C>G rs587783397 0.00223
NM_001323289.2(CDKL5):c.99+34A>G rs137874941 0.00069
NM_001323289.2(CDKL5):c.64+26G>A rs374664378 0.00051
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148 0.00029
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977 0.00014
NM_001323289.2(CDKL5):c.463+22T>C rs267608478 0.00014
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935 0.00011
NM_001323289.2(CDKL5):c.2377-31T>C rs267608658 0.00005
NM_001323289.2(CDKL5):c.978-23T>C rs267608555 0.00005
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320 0.00004
NM_001323289.2(CDKL5):c.194G>A (p.Arg65Gln) rs267608436 0.00002
NM_001323289.2(CDKL5):c.1278A>C (p.Ser426=) rs267608620 0.00001
NM_001323289.2(CDKL5):c.1767C>T (p.His589=) rs267608645 0.00001
NM_001323289.2(CDKL5):c.216T>A (p.Ile72=) rs267608439 0.00001
NM_001323289.2(CDKL5):c.333A>G (p.Lys111=) rs786204955 0.00001
NM_001323289.2(CDKL5):c.554+11G>A rs267608498 0.00001
NM_001323289.2(CDKL5):c.2308C>A (p.Gln770Lys) rs786204954
NM_001323289.2(CDKL5):c.283-99C>A rs4825261
NM_001323289.2(CDKL5):c.404-53T>C rs786204956
NM_001323289.2(CDKL5):c.405T>C (p.Asp135=) rs786204957
NM_001323289.2(CDKL5):c.573C>G (p.Ser191=) rs786204958
NM_003159.2(CDKL5):c.145+4_145+5AT(11_13)
NM_003159.2(CDKL5):c.145+4_145+5AT[13]
NM_003159.2(CDKL5):c.145+4_145+5AT[15]

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