ClinVar Miner

List of variants in gene BMPR1B studied for acromesomelic dysplasia, Demirhan type

Included ClinVar conditions (3):
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Total variants: 22
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HGVS dbSNP
NM_001203.3(BMPR1B):c.*141C>T rs1434536
NM_001203.3(BMPR1B):c.1035T>G (p.Thr345=)
NM_001203.3(BMPR1B):c.1102C>T (p.Pro368Ser) rs577188671
NM_001203.3(BMPR1B):c.1112G>A (p.Arg371Gln) rs34970181
NM_001203.3(BMPR1B):c.1384-8T>C rs201359647
NM_001203.3(BMPR1B):c.1476C>T (p.Ala492=)
NM_001203.3(BMPR1B):c.157T>C (p.Cys53Arg) rs863225041
NM_001203.3(BMPR1B):c.247-4A>G rs570808649
NM_001203.3(BMPR1B):c.251C>T (p.Thr84Ile)
NM_001203.3(BMPR1B):c.361_368del (p.Gly121fs) rs863223287
NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile) rs138801821
NM_001203.3(BMPR1B):c.430T>C (p.Leu144=) rs55980670
NM_001203.3(BMPR1B):c.445C>T (p.Arg149Trp) rs34231464
NM_001203.3(BMPR1B):c.476A>G (p.Tyr159Cys)
NM_001203.3(BMPR1B):c.613C>G (p.Gln205Glu)
NM_001203.3(BMPR1B):c.640C>A (p.Arg214Ser) rs1553941890
NM_001203.3(BMPR1B):c.657G>A (p.Trp219Ter) rs863225042
NM_001203.3(BMPR1B):c.705C>T (p.Thr235=) rs56083112
NM_001203.3(BMPR1B):c.724T>G (p.Phe242Val)
NM_001203.3(BMPR1B):c.726C>G (p.Phe242Leu)
NM_001203.3(BMPR1B):c.91C>T (p.Arg31Cys) rs745854387
NM_001203.3(BMPR1B):c.988C>T (p.His330Tyr)

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