ClinVar Miner

List of variants in gene BMPR2 reported as pathogenic by Center for Genomic Medicine,Kyoto University Graduate School of Medicine

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Total variants: 7
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HGVS dbSNP
NM_001204.7(BMPR2):c.1277-10_1277-9insGGG rs886039220
NM_001204.7(BMPR2):c.1443_1445del (p.Glu481del) rs886039221
NM_001204.7(BMPR2):c.1469C>T (p.Ala490Val) rs886039222
NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp) rs137852746
NM_001204.7(BMPR2):c.16C>T (p.Gln6Ter) rs886039219
NM_001204.7(BMPR2):c.172_173AT[3] (p.Leu59fs) rs886039223
NM_001204.7(BMPR2):c.853-2A>G rs863223424

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