List of variants reported as pathogenic for RASopathy by GeneDx

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_002524.5(NRAS):c.112-1_113dup	rs730880967
NM_002755.4(MAP2K1):c.383_384delinsTT (p.Gly128Val)	rs730880508
NM_002834.5(PTPN11):c.1517_1518delinsCC (p.Gln506Pro)	rs397509345
NM_002834.5(PTPN11):c.179_182delinsT (p.Gly60_Asp61delinsVal)	rs397507508
NM_002834.5(PTPN11):c.762ACA[4] (p.Gln257dup)	rs397507524
NM_005188.2:c.1227+2_1227+3delTACinsAAG
NM_005188.4(CBL):c.1076_1087del (p.Asp359_Lys362del)	rs397507490
NM_005188.4(CBL):c.1096-4_1096-1del	rs397517077
NM_005188.4(CBL):c.1227+2_1227+4delinsAAG	rs397507493
NM_005633.4(SOS1):c.1300_1301delinsAA (p.Gly434Lys)	rs730881048

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