ClinVar Miner

List of variants in gene BMPR2 reported as uncertain significance by GeneDx

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.276A>C (p.Gln92His) rs140683387 0.00001
NM_001204.7(BMPR2):c.104C>T (p.Ala35Val)
NM_001204.7(BMPR2):c.1087C>G (p.Leu363Val) rs781018234
NM_001204.7(BMPR2):c.1126G>A (p.Glu376Lys) rs1085307301
NM_001204.7(BMPR2):c.1250T>G (p.Phe417Cys)
NM_001204.7(BMPR2):c.1361C>T (p.Ser454Phe) rs1347010932
NM_001204.7(BMPR2):c.1427T>G (p.Leu476Arg) rs1057522712
NM_001204.7(BMPR2):c.2042C>G (p.Ser681Cys)
NM_001204.7(BMPR2):c.2693G>A (p.Gly898Asp) rs2105712608
NM_001204.7(BMPR2):c.3108delinsAGT (p.Asn1036fs)
NM_001204.7(BMPR2):c.319T>C (p.Ser107Pro) rs1085307207
NM_001204.7(BMPR2):c.968-3C>G rs1085307280

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