ClinVar Miner

List of variants reported for Noonan syndrome 1 by Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand

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Total variants: 19
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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_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_002524.5(NRAS):c.173C>T (p.Thr58Ile) rs2101742052
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.781C>A (p.Pro261Thr) rs121434594
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_006767.4(LZTR1):c.690C>G (p.Asn230Lys)
NM_006767.4(LZTR1):c.730T>C (p.Ser244Pro) rs1601718760

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