List of variants studied for Noonan syndrome by GeneReviews

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu)	rs267606920	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu)	rs397514553
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile)	rs267606921
NM_002524.5(NRAS):c.71T>A (p.Ile24Asn)	rs869025573
NM_002834.5(PTPN11):c.179_181del (p.Gly60del)	rs80338836
NM_002834.5(PTPN11):c.181_183del (p.Asp61del)	rs869025574
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys)	rs606231228
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)	rs121913369
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg)	rs387906660
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	rs387906660

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