ClinVar Miner

List of variants in gene RAF1 reported as uncertain significance for Noonan syndrome

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_002880.4(RAF1):c.917C>T (p.Ser306Leu) rs886041231 0.00002
NM_002880.4(RAF1):c.31A>T (p.Ile11Phe) rs779001930 0.00001
NM_002880.3(RAF1):c.-340_-339GA[1] rs527774250
NM_002880.4(RAF1):c.*729AACA[4] rs371820097
NM_002880.4(RAF1):c.*729AACA[6] rs371820097
NM_002880.4(RAF1):c.1079T>C (p.Phe360Ser)
NM_002880.4(RAF1):c.1418A>G (p.Asn473Ser)
NM_002880.4(RAF1):c.1432G>A (p.Glu478Lys)
NM_002880.4(RAF1):c.1466T>C (p.Leu489Ser)
NM_002880.4(RAF1):c.1467G>T (p.Leu489Phe) rs1553610155
NM_002880.4(RAF1):c.176G>A (p.Arg59His) rs1559447623
NM_002880.4(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_002880.4(RAF1):c.445C>T (p.Leu149Phe) rs1559433480
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.4(RAF1):c.767G>C (p.Arg256Thr)
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr) rs397516827

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