ClinVar Miner

List of variants in gene BMPR2 reported as pathogenic for not provided

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Total variants: 18
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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.1342del (p.Asp448fs) rs1559070248
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.295T>C (p.Cys99Arg) rs863223425
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.712C>T (p.Gln238Ter) rs1559062859
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) rs374694591
NM_001204.7(BMPR2):c.846T>G (p.Tyr282Ter) rs863223419
NM_001204.7(BMPR2):c.853-2A>G rs863223424
NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter) rs137852751

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