List of variants studied for RASopathy by Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys)
NM_002880.4(RAF1):c.1467G>C (p.Leu489Phe)	rs1553610155
NM_005633.4(SOS1):c.445G>A (p.Val149Ile)
NM_006767.4(LZTR1):c.209A>T (p.Lys70Met)
NM_006767.4(LZTR1):c.2245T>C (p.Tyr749His)	rs1601723615
NM_006767.4(LZTR1):c.360C>A (p.His120Gln)	rs1249605552
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	rs869320686
NM_007373.4(SHOC2):c.1544C>T (p.Thr515Ile)

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