ClinVar Miner

List of variants in gene RAF1 studied for Noonan syndrome

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Total variants: 51
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HGVS dbSNP
NM_001354689.3(RAF1):c.*729AACA[4] rs371820097
NM_001354689.3(RAF1):c.*729AACA[6] rs371820097
NM_001354689.3(RAF1):c.1139T>C (p.Phe380Ser)
NM_001354689.3(RAF1):c.1142G>C (p.Gly381Ala) rs397516813
NM_001354689.3(RAF1):c.1168+9_1168+21del rs727504451
NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_001354689.3(RAF1):c.1232G>T (p.Arg411Met) rs587782972
NM_001354689.3(RAF1):c.1478A>G (p.Asn493Ser)
NM_001354689.3(RAF1):c.1483T>C (p.Phe495Leu) rs730881003
NM_001354689.3(RAF1):c.1492G>A (p.Glu498Lys)
NM_001354689.3(RAF1):c.1517A>G (p.Asp506Gly) rs397516815
NM_001354689.3(RAF1):c.1526T>C (p.Leu509Ser)
NM_001354689.3(RAF1):c.1527G>T (p.Leu509Phe) rs1553610155
NM_001354689.3(RAF1):c.1532C>T (p.Thr511Ile) rs80338799
NM_001354689.3(RAF1):c.176G>A (p.Arg59His) rs1559447623
NM_001354689.3(RAF1):c.1781A>G (p.Tyr594Cys) rs370242565
NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) rs80338797
NM_001354689.3(RAF1):c.220A>G (p.Asn74Asp)
NM_001354689.3(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_001354689.3(RAF1):c.285C>G (p.Cys95Trp) rs727503384
NM_001354689.3(RAF1):c.293T>C (p.Val98Ala) rs763559779
NM_001354689.3(RAF1):c.31A>T (p.Ile11Phe) rs779001930
NM_001354689.3(RAF1):c.321-14dup rs202103447
NM_001354689.3(RAF1):c.445C>T (p.Leu149Phe) rs1559433480
NM_001354689.3(RAF1):c.452T>C (p.Phe151Ser) rs587782971
NM_001354689.3(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_001354689.3(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_001354689.3(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_001354689.3(RAF1):c.767G>C (p.Arg256Thr)
NM_001354689.3(RAF1):c.768G>C (p.Arg256Ser) rs397516826
NM_001354689.3(RAF1):c.768G>T (p.Arg256Ser) rs397516826
NM_001354689.3(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_001354689.3(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_001354689.3(RAF1):c.775T>C (p.Ser259Pro) rs3730271
NM_001354689.3(RAF1):c.775_778delinsAGGG (p.Ser259_Thr260delinsArgAla)
NM_001354689.3(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_001354689.3(RAF1):c.776C>T (p.Ser259Phe) rs397516827
NM_001354689.3(RAF1):c.781C>A (p.Pro261Thr) rs121434594
NM_001354689.3(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_001354689.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_001354689.3(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_001354689.3(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_001354689.3(RAF1):c.784A>C (p.Asn262His)
NM_001354689.3(RAF1):c.786T>A (p.Asn262Lys) rs397516829
NM_001354689.3(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_001354689.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_001354689.3(RAF1):c.913A>G (p.Ser305Gly) rs150054973
NM_001354689.3(RAF1):c.977C>T (p.Ser326Leu) rs886041231
NM_002880.3(RAF1):c.-339_-338AG[1] rs527774250
NM_002880.3(RAF1):c.-415-1C>G rs61730434

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