ClinVar Miner

List of variants in gene BMPR2 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.2811G>A (p.Arg937=) rs1061157 0.08705
NM_001204.7(BMPR2):c.853-21dup rs11464745 0.04307
NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn) rs2228545 0.02286
NM_001204.7(BMPR2):c.600A>C (p.Leu200=) rs55722784 0.01458
NM_001204.7(BMPR2):c.-301G>A rs116154690 0.00917
NM_001204.7(BMPR2):c.86A>G (p.Asn29Ser) rs112862820 0.00241
NM_001204.7(BMPR2):c.1766A>G (p.Tyr589Cys) rs199915496 0.00024
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) rs374694591 0.00004
NM_001204.7(BMPR2):c.230T>C (p.Ile77Thr) rs144389360 0.00003
NM_001204.7(BMPR2):c.1095C>T (p.Arg365=)
NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp) rs137852746
NM_001204.7(BMPR2):c.156_157del (p.Ser52_His53insTer) rs1085307169
NM_001204.7(BMPR2):c.2902G>C (p.Gly968Arg)
NM_001204.7(BMPR2):c.2982A>C (p.Glu994Asp)
NM_001204.7(BMPR2):c.345C>G (p.Phe115Leu)
NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter) rs1085307154
NM_001204.7(BMPR2):c.621+37C>G rs78779412

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