List of variants reported as pathogenic for Noonan syndrome 1 by OMIM

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
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.1232C>T (p.Thr411Met)	rs121918467
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr)	rs121918458
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)	rs121918470
NM_002834.5(PTPN11):c.179_181del (p.Gly60del)	rs80338836
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)	rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	rs121918460
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser)	rs121918453
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)	rs121918462
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	rs121918466
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)	rs267606990
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)	rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	rs121918455

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