ClinVar Miner

List of variants studied for Infantile myofibromatosis

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Total variants: 13
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HGVS dbSNP
NM_002609.4(PDGFRB):c.1519_1520insTACTGTCGGTGC (p.Arg507_Cys508insLeuLeuSerVal)
NM_002609.4(PDGFRB):c.1610C>A (p.Ala537Asp)
NM_002609.4(PDGFRB):c.1613T>A (p.Ile538Asn)
NM_002609.4(PDGFRB):c.1615_1616insGAT (p.Leu539_Ala540insArg) rs1060499541
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) rs367543286
NM_002609.4(PDGFRB):c.1682_1684del (p.Arg561_Tyr562delinsHis)
NM_002609.4(PDGFRB):c.1684T>G (p.Tyr562Asp)
NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg) rs1060499542
NM_002609.4(PDGFRB):c.1697_1702del (p.Trp566_Val568delinsLeu) rs1060499543
NM_002609.4(PDGFRB):c.1716_1717insGAGCTGATCCGATGGAAGGTGATTGAGTCTGTG (p.Ser573_Ser574insGluLeuIleArgTrpLysValIleGluSerVal)
NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys) rs864309711
NM_002609.4(PDGFRB):c.1998C>G (p.Asn666Lys) rs864309711
NM_002609.4(PDGFRB):c.2549A>T (p.Asp850Val) rs1060499540

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