ClinVar Miner

List of variants in gene BMPR2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.-301G>A rs116154690 0.00917
NM_001204.7(BMPR2):c.*5243T>C rs187619865 0.00322
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp) rs137852754 0.00016
NM_001204.7(BMPR2):c.1356C>T (p.Leu452=) rs1254220092 0.00001
NM_001204.7(BMPR2):c.1053C>T (p.Asp351=)

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