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

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001323289.2(CDKL5):c.213C>G (p.Asn71Lys)	rs1602269367
NM_001323289.2(CDKL5):c.530A>G (p.Tyr177Cys)	rs2147145573
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro)	rs587783087
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu)	rs1602232972
NM_001323289.2(CDKL5):c.825+1dup	rs1602280455

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