ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)	rs104894928	0.00001
NM_000330.4(RS1):c.185-3221G>A	rs374054249
NM_000330.4(RS1):c.320G>T (p.Gly107Val)	rs143682861
NM_000330.4(RS1):c.649del (p.Leu217fs)	rs1927598075

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