ClinVar Miner

List of variants studied for acromesomelic dysplasia, Demirhan type by Invitae

Included ClinVar conditions (3):
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Total variants: 16
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HGVS dbSNP
NM_001203.3(BMPR1B):c.*141C>T rs1434536
NM_001203.3(BMPR1B):c.1035T>G (p.Thr345=) rs760647140
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=) rs140430323
NM_001203.3(BMPR1B):c.247-4A>G rs570808649
NM_001203.3(BMPR1B):c.251C>T (p.Thr84Ile) rs200083866
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) rs1579119447
NM_001203.3(BMPR1B):c.613C>G (p.Gln205Glu) rs766791531
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) rs376819253

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