ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.554C>T (p.Thr185Met) rs61753173 0.00001
NM_000330.4(RS1):c.580A>G (p.Ile194Val) rs1464991419 0.00001
NM_000330.4(RS1):c.188G>T (p.Cys63Phe)
NM_000330.4(RS1):c.193T>C (p.Tyr65His)
NM_000330.4(RS1):c.208G>T (p.Gly70Cys)
NM_000330.4(RS1):c.251C>G (p.Ser84Cys)
NM_000330.4(RS1):c.265T>C (p.Tyr89His) rs2147194034
NM_000330.4(RS1):c.274T>G (p.Trp92Gly) rs2147194007
NM_000330.4(RS1):c.275G>T (p.Trp92Leu)
NM_000330.4(RS1):c.305G>C (p.Arg102Pro)
NM_000330.4(RS1):c.326G>C (p.Gly109Ala) rs281865345
NM_000330.4(RS1):c.327-1G>A
NM_000330.4(RS1):c.327-2A>G rs2147191432
NM_000330.4(RS1):c.341C>T (p.Ser114Phe) rs2147191395
NM_000330.4(RS1):c.366G>A (p.Trp122Ter) rs61752147
NM_000330.4(RS1):c.380T>C (p.Leu127Pro) rs61752149
NM_000330.4(RS1):c.398T>C (p.Ile133Thr)
NM_000330.4(RS1):c.404G>C (p.Gly135Ala)
NM_000330.4(RS1):c.407T>A (p.Ile136Asn)
NM_000330.4(RS1):c.451T>C (p.Tyr151His) rs2147191221
NM_000330.4(RS1):c.452A>C (p.Tyr151Ser) rs1131691380
NM_000330.4(RS1):c.460C>G (p.Gln154Glu) rs61753164
NM_000330.4(RS1):c.487T>G (p.Trp163Gly) rs1927695346
NM_000330.4(RS1):c.499A>G (p.Lys167Glu)
NM_000330.4(RS1):c.544C>G (p.Arg182Gly) rs61753171
NM_000330.4(RS1):c.545G>A (p.Arg182His)
NM_000330.4(RS1):c.545G>C (p.Arg182Pro)
NM_000330.4(RS1):c.554C>A (p.Thr185Lys) rs61753173
NM_000330.4(RS1):c.574C>G (p.Pro192Ala) rs61753174
NM_000330.4(RS1):c.577C>T (p.Pro193Ser) rs281865351
NM_000330.4(RS1):c.599G>C (p.Arg200Pro)
NM_000330.4(RS1):c.617G>T (p.Trp206Leu)
NM_000330.4(RS1):c.619C>A (p.His207Asn)
NM_000330.4(RS1):c.625C>T (p.Arg209Cys) rs281865361
NM_000330.4(RS1):c.629T>A (p.Ile210Asn) rs757697856
NM_000330.4(RS1):c.629T>C (p.Ile210Thr)
NM_000330.4(RS1):c.632C>G (p.Ala211Gly)
NM_000330.4(RS1):c.638G>T (p.Arg213Leu) rs281865364
NM_000330.4(RS1):c.656G>A (p.Cys219Tyr) rs2147188856
NM_000330.4(RS1):c.667T>G (p.Cys223Gly) rs104894929

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.