List of variants studied for Noonan syndrome by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.1174G>A (p.Ala392Thr)	rs774356443	0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)	rs121918469
NM_002834.5(PTPN11):c.1409T>C (p.Ile470Thr)	rs2038706856
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)	rs397507545
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)	rs397507505
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	rs121918460
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	rs121918454
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala)	rs397507517
NM_002834.5(PTPN11):c.772G>A (p.Glu258Lys)	rs1279770165
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met)	rs397507530
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys)	rs397516827
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)	rs727503110
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	rs869320686
NM_006767.4(LZTR1):c.993+2T>C
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)	rs869312687
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup)	rs1591495767

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