ClinVar Miner

List of variants in gene BMPR2 reported as likely pathogenic for Primary pulmonary hypertension

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000002.12:g.(?_202530784)_(202532742_?)del
NM_001204.7(BMPR2):c.1129-2A>T
NM_001204.7(BMPR2):c.1461T>G (p.Asp487Glu) rs2106042103
NM_001204.7(BMPR2):c.1488T>G (p.Cys496Trp) rs2106042155
NM_001204.7(BMPR2):c.248-2A>G rs1085307193
NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser) rs863223426
NM_001204.7(BMPR2):c.419-1G>T rs2106002050
NM_001204.7(BMPR2):c.621+1G>T rs1553508321
NM_001204.7(BMPR2):c.77-1_77delinsAA rs2105959576

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.