ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported as likely pathogenic by Blueprint Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.253_255del (p.Asn85del) rs61750458
NM_000330.4(RS1):c.266dup (p.Tyr89Ter) rs1927819239
NM_000330.4(RS1):c.316C>T (p.Gln106Ter) rs1386256334
NM_000330.4(RS1):c.337C>T (p.Leu113Phe) rs61752145
NM_000330.4(RS1):c.375_379del (p.Asp126fs) rs1927703176
NM_000330.4(RS1):c.460C>T (p.Gln154Ter) rs61753164
NM_000330.4(RS1):c.655T>C (p.Cys219Arg) rs281865369

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