List of variants in gene combination CDKL5, RS1 reported by SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000330.4(RS1):c.349C>T (p.Gln117Ter)	rs199469696
NM_000330.4(RS1):c.374T>G (p.Ile125Arg)	rs199469695
NM_000330.4(RS1):c.376G>C (p.Asp126His)	rs199469698
NM_000330.4(RS1):c.387_434dup (p.Ile144_Asp145insGluIleLysValIleSerGlyIleLeuThrGlnGlyArgCysAspIle)	rs199469699
NM_000330.4(RS1):c.579del (p.Ile194fs)	rs199469697
NM_000330.4(RS1):c.580ATC[3] (p.Ile195_Ser196insIle)	rs199469701
NM_000330.4(RS1):c.663dup (p.Lys222fs)	rs199469700

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