ClinVar Miner

List of variants studied for Myofibromatosis, infantile, 1 by Demoulin lab, University of Louvain

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002609.4(PDGFRB):c.2546_2548del (p.Arg849_Asp850delinsHis)
NM_002609.4(PDGFRB):c.2548G>T (p.Asp850Tyr)
NM_002609.4(PDGFRB):c.2905-8G>A rs201866603

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