ClinVar Miner

List of variants in gene PAFAH1B1 reported as likely pathogenic by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_000430.4(PAFAH1B1):c.1009C>G (p.His337Asp) rs587784236
NM_000430.4(PAFAH1B1):c.1193G>A (p.Gly398Asp) rs587784247
NM_000430.4(PAFAH1B1):c.121G>A (p.Glu41Lys) rs587784250
NM_000430.4(PAFAH1B1):c.503G>A (p.Cys168Tyr) rs200390886
NM_000430.4(PAFAH1B1):c.569-3del rs797045863
NM_000430.4(PAFAH1B1):c.671+4A>G rs587784279
NM_000430.4(PAFAH1B1):c.671+5G>A rs587784280
NM_000430.4(PAFAH1B1):c.751A>C (p.Ser251Arg) rs587784287
NM_000430.4(PAFAH1B1):c.899A>G (p.Glu300Gly) rs1555527149
NM_000430.4(PAFAH1B1):c.900G>A (p.Glu300=) rs587784291
NM_000430.4(PAFAH1B1):c.900G>C (p.Glu300Asp) rs587784291
NM_000430.4(PAFAH1B1):c.938C>T (p.Ser313Phe) rs587784293
NM_000430.4(PAFAH1B1):c.965T>G (p.Met322Arg) rs587784294

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.