List of variants in gene RPS19 reported as likely pathogenic for Diamond-Blackfan anemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001022.4(RPS19):c.140C>T (p.Pro47Leu)
NM_001022.4(RPS19):c.167G>A (p.Arg56Gln)
NM_001022.4(RPS19):c.167G>T (p.Arg56Leu)
NM_001022.4(RPS19):c.176C>T (p.Ser59Phe)
NM_001022.4(RPS19):c.301C>T (p.Arg101Cys)
NM_001022.4(RPS19):c.335TGG[1] (p.Val113del)	rs1064794604
NM_001022.4(RPS19):c.356+1G>A	rs879993801
NM_001022.4(RPS19):c.356+3A>C	rs1555841379
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu)	rs786200936
NM_001022.4(RPS19):c.382C>T (p.Gln128Ter)	rs1060503688
NM_001022.4(RPS19):c.411+2_411+6del
NM_001022.4(RPS19):c.71+1G>C	rs2123256342
NM_001022.4(RPS19):c.71del (p.Lys24fs)
NM_001022.4(RPS19):c.72-1G>A	rs146366047

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.