ClinVar Miner

List of variants reported as likely benign for Noonan syndrome 1

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.*801C>T rs138246203 0.01271
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_002834.5(PTPN11):c.*3043C>T rs41307084 0.00647
NM_002834.5(PTPN11):c.*3006G>A rs141870860 0.00646
NM_002834.5(PTPN11):c.*775G>A rs181946923 0.00230
NM_002834.5(PTPN11):c.*2078G>A rs144513512 0.00193
NM_002834.5(PTPN11):c.*838G>A rs142648640 0.00035
NM_002834.5(PTPN11):c.*1805C>T rs188162577 0.00033
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_002834.3(PTPN11):c.-287G>C rs377496292 0.00009
NM_002834.5(PTPN11):c.*3381A>G rs374962107 0.00003
NM_002834.5(PTPN11):c.1174G>A (p.Ala392Thr) rs774356443 0.00003
NM_002834.5(PTPN11):c.*329T>C rs576039073 0.00001
NM_002834.5(PTPN11):c.951G>A (p.Lys317=) rs576405446 0.00001
NM_002834.5(PTPN11):c.*1536T>C rs371375321
NM_002834.5(PTPN11):c.*2629A>G rs141655134

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