List of variants reported as pathogenic for RASopathy by Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)	rs121918469
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)	rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	rs121918460
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	rs121918456
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)	rs121918463
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)	rs180177036

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