List of variants in gene combination CDKL5, RS1 reported by Sharon lab, Hadassah-Hebrew University Medical Center

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000330.4(RS1):c.326G>A (p.Gly109Glu)	rs281865345
NM_000330.4(RS1):c.329G>A (p.Cys110Tyr)	rs61752075
NM_000330.4(RS1):c.418G>A (p.Gly140Arg)	rs61752156
NM_000330.4(RS1):c.421C>T (p.Arg141Cys)	rs61752158
NM_000330.4(RS1):c.523-2A>G	rs281865349
NM_000330.4(RS1):c.578C>T (p.Pro193Leu)	rs281865352
NM_000330.4(RS1):c.608C>T (p.Pro203Leu)	rs104894930
NM_000330.4(RS1):c.632C>T (p.Ala211Val)	rs1602308821

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