ClinVar Miner

List of variants in gene PQBP1 reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001032382.2(PQBP1):c.180-3C>T rs741932 0.57792
NM_001032382.2(PQBP1):c.67+78T>A rs3027518 0.01972
NM_001032382.2(PQBP1):c.*6C>T rs181088115 0.00066
NM_001032382.2(PQBP1):c.264G>A (p.Ser88=) rs398124212 0.00017
NM_001032382.2(PQBP1):c.267C>T (p.Ala89=) rs139730174 0.00011
NM_001032382.2(PQBP1):c.585C>T (p.Ser195=) rs149688357 0.00011
NM_001032382.2(PQBP1):c.356G>A (p.Arg119His) rs781981660 0.00007
NM_001032382.2(PQBP1):c.489C>T (p.Arg163=) rs782276356 0.00006
NM_001032382.2(PQBP1):c.397C>T (p.Arg133Trp) rs201489630 0.00005
NM_001032382.2(PQBP1):c.384C>T (p.His128=) rs782819795 0.00004
NM_001032382.2(PQBP1):c.249C>T (p.Ser83=) rs148270310 0.00003
NM_001032382.2(PQBP1):c.292+6T>G rs781958954 0.00003
NM_001032382.2(PQBP1):c.*3C>T rs781944808 0.00002
NM_001032382.2(PQBP1):c.288T>C (p.Asn96=) rs782360331 0.00002
NM_001032382.2(PQBP1):c.102C>T (p.Asp34=) rs143156492 0.00001
NM_001032382.2(PQBP1):c.180C>T (p.Cys60=) rs782164475 0.00001
NM_001032382.2(PQBP1):c.300A>G (p.Glu100=) rs1557041343 0.00001
NM_001032382.2(PQBP1):c.179+19dup rs2519604921
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_001032382.2(PQBP1):c.393_413del (p.127GHDKSDR[1]) rs782547972
NM_001032382.2(PQBP1):c.578-44= rs3027516

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.