ClinVar Miner

List of variants in gene RAF1 reported as likely benign for Noonan syndrome and Noonan-related syndrome

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.909A>C (p.Thr303=) rs5746219 0.00025
NM_002880.4(RAF1):c.124G>A (p.Ala42Thr) rs200856000 0.00021
NM_002880.4(RAF1):c.125C>T (p.Ala42Val) rs11549992 0.00021
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_002880.4(RAF1):c.576A>G (p.Gln192=) rs148759910 0.00016
NM_002880.4(RAF1):c.1629G>A (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.1947G>A (p.Ter649=) rs1471833190
NM_002880.4(RAF1):c.424-5_424-3del rs764020787

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