List of variants in gene CDKL5 reported by NeuroMeGen, Hospital Clinico Santiago de Compostela

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs)	rs267608433
NM_001323289.2(CDKL5):c.176G>C (p.Arg59Pro)	rs1555949009
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter)	rs267608659
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)	rs61753251
NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr)	rs122460157
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr)	rs1555950468

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