ClinVar Miner

List of variants reported as uncertain significance for acromesomelic dysplasia, Demirhan type

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
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.251C>T (p.Thr84Ile) rs200083866
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.724T>G (p.Phe242Val)
NM_001203.3(BMPR1B):c.726C>G (p.Phe242Leu) rs376819253

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