ClinVar Miner

List of variants in gene MCPH1 reported by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser) rs1057091 0.26146
NM_024596.5(MCPH1):c.1719C>T (p.Ser573=) rs35551093 0.01384
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) rs77959215 0.00160
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn) rs201261159 0.00067
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu) rs199700538 0.00046
NM_024596.5(MCPH1):c.775A>C (p.Lys259Gln) rs375695403 0.00018
NM_024596.5(MCPH1):c.2108G>A (p.Arg703His) rs370275760 0.00013
NM_024596.5(MCPH1):c.1186C>A (p.His396Asn) rs201128010 0.00010
NM_024596.5(MCPH1):c.1679G>T (p.Ser560Ile) rs201405704 0.00010
NM_024596.5(MCPH1):c.2395C>T (p.Pro799Ser) rs369127299 0.00008
NM_024596.5(MCPH1):c.1477C>T (p.Arg493Cys) rs757646355 0.00006
NM_024596.5(MCPH1):c.1974-2A>G rs541042265 0.00005
NM_024596.5(MCPH1):c.1625T>G (p.Leu542Ter) rs748011724 0.00004
NM_024596.5(MCPH1):c.2105C>T (p.Ala702Val) rs751512309 0.00003
NM_024596.5(MCPH1):c.2215-19_2215-18delinsGC rs2129580718
NM_024596.5(MCPH1):c.2257G>A (p.Gly753Arg) rs587783737

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.