ClinVar Miner

List of variants in gene BMPR2 reported as likely pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.12del (p.Leu5fs) rs1690174710
NM_001204.7(BMPR2):c.1487G>A (p.Cys496Tyr) rs1085307362
NM_001204.7(BMPR2):c.2797A>T (p.Arg933Ter) rs766741057
NM_001204.7(BMPR2):c.353G>A (p.Cys118Tyr) rs1085307216

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