List of variants reported as pathogenic for RASopathy by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_001042492.3(NF1):c.1722-2A>G	rs763983337
NM_001042492.3(NF1):c.1845+1G>A	rs1567845945
NM_001042492.3(NF1):c.587-2A>G	rs1057518360
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser)	rs397507473
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)	rs121918469
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)	rs397507545
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)	rs397507505
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	rs121918460
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala)	rs397507517
NM_004333.6(BRAF):c.1722C>G (p.His574Gln)	rs397507481
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)	rs727503110
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	rs869320686
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)	rs869312687
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup)	rs1591495767

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