ClinVar Miner

List of variants reported as uncertain significance for Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004991.4(MECOM):c.1301C>T (p.Ala434Val)	rs1042646683	0.00001
NM_004991.4(MECOM):c.514T>C (p.Phe172Leu)
NM_004991.4(MECOM):c.782C>T (p.Thr261Met)	rs146635720

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