List of variants reported as pathogenic for Acromesomelic dysplasia, Demirhan type

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Total variants: 4

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HGVS	dbSNP
NM_001203.3(BMPR1B):c.157T>C (p.Cys53Arg)	rs863225041
NM_001203.3(BMPR1B):c.361_368del (p.Gly121fs)	rs863223287
NM_001203.3(BMPR1B):c.657G>A (p.Trp219Ter)	rs863225042
NM_001203.3(BMPR1B):c.91C>T (p.Arg31Cys)	rs745854387

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