ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
NM_001204.7(BMPR2):c.1342del (p.Asp448fs) rs1559070248
NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln) rs137852749
NM_001204.7(BMPR2):c.1487G>A (p.Cys496Tyr) rs1085307362
NM_001204.7(BMPR2):c.1506del (p.Glu503fs) rs1553512523
NM_001204.7(BMPR2):c.350G>A (p.Cys117Tyr) rs1085307215
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) rs137852753
NM_001204.7(BMPR2):c.712C>T (p.Gln238Ter) rs1559062859

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