List of variants in gene CDKL5 reported as benign for CDKL5 disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

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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	0.00067
NM_001323289.2(CDKL5):c.283-43G>A	rs267608448	0.00061
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=)	rs143992148	0.00029
NM_001323289.2(CDKL5):c.463+22T>C	rs267608478	0.00026
NM_001323289.2(CDKL5):c.2445C>T (p.Ser815=)	rs371902632	0.00021
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=)	rs148697943	0.00018
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys)	rs61753977	0.00014
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr)	rs144878564	0.00012
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu)	rs587783156	0.00012
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=)	rs373448935	0.00011
NM_001323289.2(CDKL5):c.283-13A>G	rs587783404	0.00011
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr)	rs201893287	0.00009
NM_001323289.2(CDKL5):c.1064G>A (p.Arg355Gln)	rs189400843	0.00006
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val)	rs781427744	0.00006
NM_001323289.2(CDKL5):c.1721C>T (p.Pro574Leu)	rs199897804	0.00006
NM_001323289.2(CDKL5):c.761A>G (p.His254Arg)	rs1481627825	0.00006
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser)	rs748459878	0.00005
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=)	rs369377144	0.00005
NM_001323289.2(CDKL5):c.978-23T>C	rs267608555	0.00005
NM_001323289.2(CDKL5):c.1768G>A (p.Glu590Lys)	rs372629988	0.00004
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=)	rs138125282	0.00004
NM_001323289.2(CDKL5):c.2546C>T (p.Ser849Leu)	rs1064795982	0.00003
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=)	rs756986206	0.00002
NM_001323289.2(CDKL5):c.194G>A (p.Arg65Gln)	rs267608436	0.00002
NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=)	rs371603866	0.00001
NM_001323289.2(CDKL5):c.1767C>T (p.His589=)	rs267608645	0.00001
NM_001323289.2(CDKL5):c.554+11G>A	rs267608498	0.00001
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del)	rs587783114
NM_001323289.2(CDKL5):c.283-99C>A	rs4825261

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