ClinVar Miner

List of variants reported as likely benign for RASopathy by ClinGen RASopathy Variant Curation Expert Panel

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.581+4A>G rs201776526 0.00087
NM_002755.4(MAP2K1):c.69C>T (p.Thr23=) rs140749690 0.00054
NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=) rs146618055 0.00034
NM_002834.5(PTPN11):c.643-6dup rs758889732 0.00030
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 0.00029
NM_002834.5(PTPN11):c.333-3T>C rs146749153 0.00026
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser) rs144934321 0.00026
NM_002880.4(RAF1):c.909A>C (p.Thr303=) rs5746219 0.00025
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_002755.4(MAP2K1):c.1068+9A>G rs368800650 0.00024
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_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_004333.6(BRAF):c.483G>C (p.Leu161=) rs61730029 0.00016
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala) rs150565592 0.00016
NM_002880.4(RAF1):c.680+6T>C rs371846795 0.00014
NM_004985.5(KRAS):c.451-14T>C rs372508498 0.00014
NM_030662.3(MAP2K2):c.*8C>T rs377675706 0.00014
NM_005633.4(SOS1):c.3330G>C (p.Ser1110=) rs146383828 0.00013
NM_005633.4(SOS1):c.1647A>G (p.Thr549=) rs139683425 0.00011
NM_007373.4(SHOC2):c.377C>T (p.Thr126Ile) rs138375593 0.00011
NM_033360.4(KRAS):c.90C>T (p.Asp30=) rs113623140 0.00011
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917 0.00009
NM_005633.4(SOS1):c.280A>G (p.Ile94Val) rs144757941 0.00009
NM_005633.4(SOS1):c.3322G>A (p.Asp1108Asn) rs199856844 0.00009
NM_030662.4(MAP2K2):c.919+4C>T rs763424788 0.00009
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_007373.4(SHOC2):c.363G>A (p.Glu121=) rs115713408 0.00007
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_002880.4(RAF1):c.66T>G (p.Phe22Leu) rs397516824 0.00006
NM_004333.6(BRAF):c.92C>G (p.Ala31Gly) rs397516906 0.00006
NM_007373.4(SHOC2):c.613A>G (p.Thr205Ala) rs768411950 0.00005
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005633.4(SOS1):c.2156G>C (p.Gly719Ala) rs200794965 0.00004
NM_030662.4(MAP2K2):c.240G>A (p.Ala80=) rs543217722 0.00004
NM_030662.4(MAP2K2):c.818A>G (p.Lys273Arg) rs539555837 0.00003
NM_002880.4(RAF1):c.1113T>C (p.Asp371=) rs146668293 0.00002
NM_004333.6(BRAF):c.*7T>C rs727502903 0.00002
NM_005633.4(SOS1):c.39A>G (p.Glu13=) rs763337946 0.00002
NM_005633.4(SOS1):c.899G>A (p.Arg300Gln) rs754374236 0.00002
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala) rs730881018 0.00002
NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp) rs370799450 0.00002
NM_002755.4(MAP2K1):c.1098T>C (p.Ala366=) rs200293968 0.00001
NM_002880.4(RAF1):c.907A>G (p.Thr303Ala) rs775898894 0.00001
NM_005343.4(HRAS):c.510G>A (p.Lys170=) rs397517143 0.00001
NM_005633.4(SOS1):c.350T>G (p.Val117Gly) rs201085754 0.00001
NM_002755.4(MAP2K1):c.896-5T>C rs748953467
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965
NM_004333.6(BRAF):c.111G>A (p.Ser37=) rs727502906
NM_005633.4(SOS1):c.225A>G (p.Gln75=) rs560037748
NM_005633.4(SOS1):c.294G>A (p.Lys98=) rs748478952
NM_005633.4(SOS1):c.3658G>A (p.Val1220Met) rs776814547
NM_005633.4(SOS1):c.3709C>A (p.Pro1237Thr) rs371408734
NM_007373.4(SHOC2):c.1540+8C>A rs771283010
NM_007373.4(SHOC2):c.1540+8C>T rs771283010
NM_030662.4(MAP2K2):c.45C>T (p.Asn15=) rs767770776
NM_030662.4(MAP2K2):c.813C>T (p.Asp271=) rs201726622
NM_030662.4(MAP2K2):c.847G>T (p.Val283Leu) rs185999703

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