ClinVar Miner

List of variants in gene GPX4 reported as uncertain significance for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002085.5(GPX4):c.200C>G (p.Thr67Ser) rs201903291 0.00040
NM_002085.5(GPX4):c.85-321G>A rs371892333 0.00009
NM_002085.5(GPX4):c.552G>T (p.Glu184Asp) rs747058722 0.00005
NM_002085.5(GPX4):c.580C>T (p.Pro194Ser) rs375048133 0.00005
NM_002085.5(GPX4):c.199A>C (p.Thr67Pro) rs772198561 0.00003
NM_002085.5(GPX4):c.415G>A (p.Asp139Asn) rs536194289 0.00003
NM_002085.5(GPX4):c.462G>C (p.Lys154Asn) rs748668129 0.00003
NM_002085.5(GPX4):c.85-307C>T rs771717955 0.00003
NM_002085.5(GPX4):c.85-282A>G rs1307387677 0.00002
NM_002085.5(GPX4):c.106C>T (p.Arg36Cys) rs749766545 0.00001
NM_002085.5(GPX4):c.116G>A (p.Arg39His) rs1329352272 0.00001
NM_002085.5(GPX4):c.359C>T (p.Ala120Val) rs531824867 0.00001
NM_002085.5(GPX4):c.535C>T (p.Arg179Cys) rs760126037 0.00001
NM_002085.5(GPX4):c.85-258C>T rs2512690555 0.00001
NM_002085.5(GPX4):c.157A>C (p.Met53Leu)
NM_002085.5(GPX4):c.157A>G (p.Met53Val) rs762792092
NM_002085.5(GPX4):c.202A>G (p.Asn68Asp)
NM_002085.5(GPX4):c.271G>A (p.Ala91Thr)
NM_002085.5(GPX4):c.307A>G (p.Asn103Asp) rs781318061
NM_002085.5(GPX4):c.331G>A (p.Gly111Arg)
NM_002085.5(GPX4):c.335G>A (p.Ser112Asn)
NM_002085.5(GPX4):c.340G>A (p.Glu114Lys) rs199787199
NM_002085.5(GPX4):c.385A>G (p.Met129Val) rs779141388
NM_002085.5(GPX4):c.386T>C (p.Met129Thr)
NM_002085.5(GPX4):c.457G>A (p.Gly153Ser)
NM_002085.5(GPX4):c.486G>T (p.Lys162Asn)
NM_002085.5(GPX4):c.545C>T (p.Pro182Leu) rs2512697203
NM_002085.5(GPX4):c.85-280G>C rs1388361470
NM_002085.5(GPX4):c.85-294G>T rs368897080
NM_002085.5(GPX4):c.85-309G>C
NM_002085.5(GPX4):c.85-340A>G
NM_002085.5(GPX4):c.85-342G>C rs2512690304

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.