List of variants reported as pathogenic for Noonan syndrome by ClinGen RASopathy Variant Curation Expert Panel

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	rs397507547
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val)	rs80338797
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	rs80338796
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser)	rs121434594
NM_004985.5(KRAS):c.101C>T (p.Pro34Leu)	rs104894366
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile)	rs104894364
NM_004985.5(KRAS):c.40G>A (p.Val14Ile)	rs104894365
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)	rs104894360
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)	rs727503110
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)	rs104894228
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg)	rs397517149
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)	rs137852814
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)	rs397517154
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr)	rs397517154
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys)	rs397517159
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys)	rs397517164
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)	rs397517172
NM_005633.4(SOS1):c.806T>C (p.Met269Thr)	rs137852813
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn)	rs104894361

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