List of variants in gene CDKL5 reported as likely pathogenic by GeneDx

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: 24

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HGVS	dbSNP	gnomAD frequency
NM_001323289.2(CDKL5):c.350A>G (p.Tyr117Cys)	rs1189749755	0.00005
NM_001323289.2(CDKL5):c.113T>G (p.Ile38Ser)	rs1555947847
NM_001323289.2(CDKL5):c.121A>T (p.Ile41Phe)	rs587783071
NM_001323289.2(CDKL5):c.125_129delinsC (p.Lys42fs)	rs2147132253
NM_001323289.2(CDKL5):c.2038A>T (p.Lys680Ter)	rs1569220754
NM_001323289.2(CDKL5):c.2152+5G>A	rs1926476615
NM_001323289.2(CDKL5):c.2345C>A (p.Ser782Ter)	rs1555954074
NM_001323289.2(CDKL5):c.234_238dup (p.Arg80fs)	rs1555949033
NM_001323289.2(CDKL5):c.2374dup (p.Thr792fs)	rs1602295779
NM_001323289.2(CDKL5):c.2733G>A (p.Trp911Ter)	rs1555955268
NM_001323289.2(CDKL5):c.393T>G (p.Ile131Met)	rs1085307934
NM_001323289.2(CDKL5):c.403G>C (p.Asp135His)	rs1064794919
NM_001323289.2(CDKL5):c.404-3C>A	rs587783079
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val)	rs863225066
NM_001323289.2(CDKL5):c.524G>T (p.Arg175Ile)	rs1064794734
NM_001323289.2(CDKL5):c.526T>A (p.Trp176Arg)	rs587783084
NM_001323289.2(CDKL5):c.566dup (p.Ser191fs)	rs2147147959
NM_001323289.2(CDKL5):c.590T>G (p.Val197Gly)	rs1057521806
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro)	rs587783087
NM_001323289.2(CDKL5):c.605G>A (p.Gly202Glu)
NM_001323289.2(CDKL5):c.626C>G (p.Pro209Arg)	rs587783088
NM_001323289.2(CDKL5):c.65G>C (p.Gly22Ala)	rs1602232972
NM_001323289.2(CDKL5):c.854G>A (p.Arg285Lys)	rs1064795672
NM_001323289.2(CDKL5):c.871T>C (p.Cys291Arg)	rs1131691376

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