ClinVar Miner

List of variants in gene BMPR2 reported as pathogenic for lung disorder

Included ClinVar conditions (132):
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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.1750C>T (p.Arg584Ter) rs765887545 0.00001
NM_001204.7(BMPR2):c.(76+1_77-1)_(247+1_248-1)del
NM_001204.7(BMPR2):c.1120del (p.Ala373_Ile374insTer) rs1085307300
NM_001204.7(BMPR2):c.120T>G (p.Tyr40Ter) rs137852755
NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter) rs1060502576
NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln) rs137852749
NM_001204.7(BMPR2):c.156_157del (p.Ser52_His53insTer) rs1085307169
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) rs137852741
NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter) rs869025366
NM_001204.7(BMPR2):c.44del (p.Pro15fs) rs483352902
NM_001204.7(BMPR2):c.529+1G>A rs1553508187
NM_001204.7(BMPR2):c.530-2A>G rs2106003122
NM_001204.7(BMPR2):c.583G>T (p.Glu195Ter) rs397514497
NM_001204.7(BMPR2):c.604A>T (p.Asn202Tyr) rs397514496
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) rs137852753
NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter) rs886041324

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