ClinVar Miner

List of variants in gene CDKL5 reported as likely benign for X-linked syndromic intellectual disability

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_001323289.2(CDKL5):c.145+17A>G rs199814742
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) rs587783114
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935
NM_001323289.2(CDKL5):c.987C>T (p.Ala329=) rs142665931
NM_003159.2(CDKL5):c.100-7C>T rs752279222
NM_003159.2(CDKL5):c.1038C>T (p.Ile346=) rs754663076
NM_003159.2(CDKL5):c.1094G>C (p.Ser365Thr) rs1279388510
NM_003159.2(CDKL5):c.1590A>C (p.Pro530=) rs891117762
NM_003159.2(CDKL5):c.1692T>C (p.His564=) rs765011302
NM_003159.2(CDKL5):c.2220A>G (p.Pro740=) rs142079769
NM_003159.2(CDKL5):c.2493C>T (p.Thr831=) rs1555954758

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