ClinVar Miner

List of variants in gene BMPR1B reported as benign for acromesomelic dysplasia 3

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001203.3(BMPR1B):c.*141C>T rs1434536 0.45277
NM_001203.3(BMPR1B):c.705C>T (p.Thr235=) rs56083112 0.00784
NM_001203.3(BMPR1B):c.1476C>T (p.Ala492=) rs140430323 0.00163
NM_001203.3(BMPR1B):c.586-18T>G rs80218727 0.00115
NM_001203.3(BMPR1B):c.1384-8T>C rs201359647 0.00041
NM_001203.3(BMPR1B):c.445C>T (p.Arg149Trp) rs34231464 0.00024
NM_001203.3(BMPR1B):c.74C>G (p.Pro25Arg) rs145700191 0.00019
NM_001203.3(BMPR1B):c.901A>G (p.Met301Val) rs199613098 0.00014
NM_001203.3(BMPR1B):c.16G>A (p.Ala6Thr) rs143885868 0.00009
NM_001203.3(BMPR1B):c.891C>T (p.Asp297=) rs112111860 0.00009
NM_001203.3(BMPR1B):c.670C>T (p.Arg224Cys) rs777745046 0.00002
NM_001203.3(BMPR1B):c.1102C>T (p.Pro368Ser) rs577188671 0.00001
NM_001203.3(BMPR1B):c.247-4A>G rs570808649 0.00001
NM_001203.3(BMPR1B):c.906G>C (p.Leu302=)

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