ClinVar Miner

List of variants studied for Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004991.4(MECOM):c.2577+4A>T rs2549379424
NM_004991.4(MECOM):c.2873_2875del (p.Phe958_Ser959delinsCys) rs2148891166
NM_004991.4(MECOM):c.2889C>G (p.Asn963Lys) rs2549200204

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