ClinVar Miner

List of variants reported as likely pathogenic for Iron accumulation in brain

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu) rs587784326
NM_003560.4(PLA2G6):c.1117G>A (p.Gly373Arg) rs587784327
NM_003560.4(PLA2G6):c.1489C>T (p.Leu497Phe) rs587784331
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His) rs535486098
NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg) rs121908681
NM_003560.4(PLA2G6):c.1973A>C (p.Asn658Thr) rs587784340
NM_003560.4(PLA2G6):c.1978C>T (p.Pro660Ser) rs587784341
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347
NM_003560.4(PLA2G6):c.2246G>C (p.Trp749Ser) rs587784351
NM_003560.4(PLA2G6):c.2396T>A (p.Leu799His) rs587784354
NM_003560.4(PLA2G6):c.478T>C (p.Cys160Arg) rs587784355
NM_003560.4(PLA2G6):c.4C>A (p.Gln2Lys) rs587784356
NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr) rs587784359
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del) rs587784360
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) rs587784363
NM_003560.4(PLA2G6):c.994T>C (p.Cys332Arg) rs587784364

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.