ClinVar Miner

List of variants in gene PAFAH1B1 reported by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter) rs121434489
NM_000430.4(PAFAH1B1):c.446A>G (p.His149Arg) rs121434482
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser) rs121434487
NM_000430.4(PAFAH1B1):c.505T>C (p.Ser169Pro) rs121434484
NM_000430.4(PAFAH1B1):c.722G>C (p.Arg241Pro) rs121434488
NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter) rs121434483
NM_000430.4(PAFAH1B1):c.830A>C (p.His277Pro) rs121434490
NM_000430.4(PAFAH1B1):c.92T>C (p.Phe31Ser) rs121434486
NM_000430.4(PAFAH1B1):c.949G>C (p.Asp317His) rs121434485
NM_000430.4(PAFAH1B1):c.991_1002+10del rs1567561137

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.