List of variants studied for Noonan syndrome by Centre for Human Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr)	rs1275511136	0.00001
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	rs80338796
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)	rs104894229
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg)	rs397517149
NM_006767.4(LZTR1):c.2238del (p.Tyr747fs)
NM_006767.4(LZTR1):c.2426T>G (p.Leu809Arg)
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	rs869320686
NM_006767.4(LZTR1):c.851G>A (p.Arg284His)	rs768361273

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