List of variants in gene CDKL5 reported as likely pathogenic for West syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001323289.2(CDKL5):c.1238C>A (p.Ser413Ter)	rs267608618
NM_001323289.2(CDKL5):c.1596del (p.Thr533fs)	rs1555952078
NM_001323289.2(CDKL5):c.2480_2486dup (p.Gln830fs)	rs1555954752
NM_001323289.2(CDKL5):c.404-1G>C	rs267608474
NM_001323289.2(CDKL5):c.99+1G>T	rs267608421

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