ClinVar Miner

List of variants in gene PTPN11 reported as likely benign for Noonan syndrome 1

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Total variants: 15
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HGVS dbSNP
NM_002834.4(PTPN11):c.*1536T>C rs371375321
NM_002834.4(PTPN11):c.*1805C>T rs188162577
NM_002834.4(PTPN11):c.*3006G>A rs141870860
NM_002834.4(PTPN11):c.*3043C>T rs41307084
NM_002834.4(PTPN11):c.*329T>C rs576039073
NM_002834.4(PTPN11):c.*3381A>G rs374962107
NM_002834.4(PTPN11):c.*775G>A rs181946923
NM_002834.4(PTPN11):c.*838G>A rs142648640
NM_002834.4(PTPN11):c.1174G>A (p.Ala392Thr) rs774356443
NM_002834.4(PTPN11):c.951G>A (p.Lys317=) rs576405446
NM_002834.5(PTPN11):c.*2078G>A
NM_002834.5(PTPN11):c.*2629A>G
NM_002834.5(PTPN11):c.*801C>T
NM_002834.5(PTPN11):c.525+12G>C rs41304351
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312

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