ClinVar Miner

List of variants reported as likely benign for CDKL5 disorder

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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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
NM_003159.2(CDKL5):c.2797+8_2797+9del rs1555957573
NM_003159.2(CDKL5):c.2841G>A (p.Pro947=) rs368344738
NM_003159.2(CDKL5):c.2933T>G (p.Leu978Arg) rs143243059
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) rs36022183
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) rs139155110

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