List of variants reported as likely pathogenic for RASopathy by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_002745.5(MAPK1):c.763A>G (p.Ile255Val)	rs375334289	0.00002
NM_001042492.3(NF1):c.1426A>G (p.Lys476Glu)	rs2066785949
NM_001042492.3(NF1):c.3063_3065del (p.Met1023del)	rs2151431646
NM_001042492.3(NF1):c.3142T>C (p.Trp1048Arg)	rs1555614634
NM_001042492.3(NF1):c.3236T>C (p.Leu1079Pro)	rs2151433731
NM_001042492.3(NF1):c.3302A>T (p.Gln1101Leu)	rs2151433891
NM_001042492.3(NF1):c.4235_4240del (p.Arg1412_Phe1413del)	rs2151461951
NM_001042492.3(NF1):c.4608_4611delinsC (p.Asp1537del)	rs2151466254
NM_001042492.3(NF1):c.4619C>A (p.Ala1540Glu)	rs2151466279
NM_001042492.3(NF1):c.4836G>C (p.Arg1612Ser)	rs1555533268
NM_001042492.3(NF1):c.5398A>C (p.Thr1800Pro)	rs2151541217
NM_001042492.3(NF1):c.5534T>C (p.Ile1845Thr)	rs1060500339
NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu)	rs1567613616
NM_001042492.3(NF1):c.579_581del (p.Leu194del)	rs2143708173
NM_001042492.3(NF1):c.6022G>C (p.Asp2008His)	rs786201924
NM_001042492.3(NF1):c.6052A>C (p.Ser2018Arg)	rs2151553286
NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg)	rs1597848100
NM_001042492.3(NF1):c.968C>A (p.Ala323Asp)	rs2066507556
NM_002755.4(MAP2K1):c.265C>A (p.Pro89Thr)	rs1265809314
NM_004985.5(KRAS):c.451-5642A>T	rs1592798693
NM_006912.6(RIT1):c.116T>G (p.Met39Arg)	rs2102590945

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