List of variants studied for Noonan syndrome and Noonan-related syndrome by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)	rs397507529	0.00001
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	rs886037952
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)	rs727504317
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	rs121918455
NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu)	rs180177042

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