ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
Download table as spreadsheet
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.3600C>G (p.Asp1200Glu) rs141594736 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.