ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.208G>T (p.Gly70Cys)
NM_000330.4(RS1):c.366G>A (p.Trp122Ter) rs61752147
NM_000330.4(RS1):c.487T>G (p.Trp163Gly) rs1927695346

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