ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder 9B by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_000288.4(PEX7):c.*115A>G
NM_000288.4(PEX7):c.*124A>G
NM_000288.4(PEX7):c.*223T>A
NM_000288.4(PEX7):c.*272A>G rs186705952
NM_000288.4(PEX7):c.*305C>A rs567568009
NM_000288.4(PEX7):c.*305C>T rs567568009
NM_000288.4(PEX7):c.*306T>G rs1050803
NM_000288.4(PEX7):c.*367T>C rs886061124
NM_000288.4(PEX7):c.*38G>A rs41288965
NM_000288.4(PEX7):c.-18C>T
NM_000288.4(PEX7):c.-28G>A rs376808803
NM_000288.4(PEX7):c.-31G>A rs115866467
NM_000288.4(PEX7):c.-35G>A rs886061116
NM_000288.4(PEX7):c.-3G>A rs886061117
NM_000288.4(PEX7):c.-56C>T rs73777751
NM_000288.4(PEX7):c.-65A>T
NM_000288.4(PEX7):c.-69C>A
NM_000288.4(PEX7):c.130+11G>T rs886061119
NM_000288.4(PEX7):c.130+13C>A rs886061120
NM_000288.4(PEX7):c.188+3A>G rs200234391
NM_000288.4(PEX7):c.316G>C (p.Val106Leu) rs886061121
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.4(PEX7):c.418-4G>T rs199552223
NM_000288.4(PEX7):c.496C>T (p.His166Tyr)
NM_000288.4(PEX7):c.554T>C (p.Val185Ala)
NM_000288.4(PEX7):c.576C>T (p.Ile192=) rs776411851
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys) rs780186421
NM_000288.4(PEX7):c.748-10T>C rs886061122
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile)
NM_000288.4(PEX7):c.804-5C>T rs369653173
NM_000288.4(PEX7):c.843A>G (p.Thr281=) rs767903764
NM_000288.4(PEX7):c.903+8A>G rs779919482
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys) rs201106072
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118
NM_000288.4(PEX7):c.961A>G (p.Ile321Val) rs879706210

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.