List of variants reported as pathogenic for CDKL5 disorder by OMIM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val)	rs122460159
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs)	rs267608433
NM_001323289.2(CDKL5):c.183del (p.Met63fs)	rs62643608
NM_001323289.2(CDKL5):c.2047-1G>A	rs267608650
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr)	rs62641235
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter)	rs122460158
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)	rs61753251
NM_001323289.2(CDKL5):c.404-1G>T	rs267608474
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe)	rs122460157
NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser)	rs61749700
NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro)	rs267606715
NM_001323289.2(CDKL5):c.863C>T (p.Thr288Ile)	rs267606713
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr)	rs267606714
NM_001323289.2(CDKL5):c.902_903dup (p.Leu302fs)	rs267608546

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