List of variants in gene CDKL5 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001323289.2(CDKL5):c.146-1G>A	rs587783399
NM_001323289.2(CDKL5):c.1471dup (p.Ala491fs)	rs1602286449
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)	rs267608643
NM_001323289.2(CDKL5):c.1744dup (p.Ser582fs)
NM_001323289.2(CDKL5):c.2101dup (p.Arg701fs)	rs2147164710
NM_001323289.2(CDKL5):c.2432del (p.Ala811fs)	rs1927001903
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)	rs61753251
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg)	rs267608468
NM_001323289.2(CDKL5):c.413C>T (p.Pro138Leu)	rs587783081
NM_001323289.2(CDKL5):c.463+5G>A	rs886042303
NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly)	rs267608500
NM_001323289.2(CDKL5):c.766C>T (p.Gln256Ter)	rs1555951142
NM_001323289.2(CDKL5):c.80T>C (p.Val27Ala)
NM_001323289.2(CDKL5):c.989_1010del (p.Gly330fs)	rs1926254082

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