ClinVar Miner

List of variants in gene RAF1 reported as likely pathogenic for Noonan syndrome 5

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.709G>A (p.Ala237Thr) rs587777588 0.00001
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys) rs397516827
NM_002880.4(RAF1):c.788T>C (p.Val263Ala) rs397516830

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