ClinVar Miner

List of variants in gene BMPR2 reported as pathogenic by GeneDx

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) rs374694591 0.00004
NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg) rs863223425 0.00001
NM_001204.7(BMPR2):c.853-2A>G rs863223424 0.00001
NM_001204.7(BMPR2):c.1091del (p.Val364fs) rs2106018209
NM_001204.7(BMPR2):c.1097del (p.Pro366fs) rs1085307296
NM_001204.7(BMPR2):c.1128+1G>A rs863223420
NM_001204.7(BMPR2):c.1128+1G>C rs863223420
NM_001204.7(BMPR2):c.1451G>A (p.Trp484Ter) rs1085307355
NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp) rs137852746
NM_001204.7(BMPR2):c.1789C>T (p.Arg597Ter) rs886039673
NM_001204.7(BMPR2):c.186dup (p.Gly63fs) rs863223423
NM_001204.7(BMPR2):c.2580del (p.Asn861fs) rs1085307395
NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser) rs863223426
NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter) rs869025366
NM_001204.7(BMPR2):c.541C>T (p.Gln181Ter) rs1085307242
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) rs137852753
NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter) rs886041324
NM_001204.7(BMPR2):c.796_799del (p.Arg266fs) rs1085307261
NM_001204.7(BMPR2):c.846T>G (p.Tyr282Ter) rs863223419
NM_001204.7(BMPR2):c.862dup (p.Cys288fs)
NM_001204.7(BMPR2):c.895del (p.Trp298_Val299insTer)
NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter) rs137852751

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