ClinVar Miner

List of variants in gene BMPR2 reported as likely benign by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.*6001T>C rs187466173 0.00332
NM_001204.7(BMPR2):c.*3353T>C rs181966045 0.00331
NM_001204.7(BMPR2):c.*6525G>A rs527620155 0.00045
NM_001204.7(BMPR2):c.1042G>A (p.Val348Ile) rs201067849 0.00020
NM_001204.7(BMPR2):c.57G>A (p.Leu19=) rs759723251 0.00010
NM_001204.7(BMPR2):c.2379A>C (p.Thr793=) rs3731697 0.00009
NM_001204.7(BMPR2):c.1607G>A (p.Arg536His) rs201440272 0.00006
NM_001204.7(BMPR2):c.*3446G>A rs528232781 0.00005
NM_001204.7(BMPR2):c.1677T>A (p.Thr559=) rs748684688 0.00005
NM_001204.7(BMPR2):c.2801G>C (p.Arg934Thr) rs575479720 0.00004
NM_001204.7(BMPR2):c.2960C>T (p.Ser987Phe) rs150642992 0.00004
NM_001204.7(BMPR2):c.-310A>G rs562548424 0.00002
NM_001204.7(BMPR2):c.1302G>A (p.Met434Ile) rs759257550 0.00002
NM_001204.7(BMPR2):c.1481C>T (p.Ala494Val) rs2229778 0.00001
NM_001204.7(BMPR2):c.1545C>T (p.Ser515=) rs762746699 0.00001
NM_001204.7(BMPR2):c.*309del rs372583015
NM_001204.7(BMPR2):c.*5627G>T rs548032308
NM_001204.7(BMPR2):c.-212dup rs576966565
NM_001204.7(BMPR2):c.-927AGC[4] rs568136148
NM_001204.7(BMPR2):c.1862C>A (p.Thr621Lys) rs147943794

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