ClinVar Miner

List of variants reported as likely benign for Noonan syndrome and Noonan-related syndrome by Genome Diagnostics Laboratory, The Hospital for Sick Children

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.*560_*561insAT rs56722042 0.24273
NM_005188.4(CBL):c.*559_*560insC rs3833768 0.24253
NM_002834.5(PTPN11):c.*1006del rs146940557 0.05739
NM_152594.3(SPRED1):c.*256C>T rs145373657 0.01162
NM_152594.3(SPRED1):c.583-7A>G rs115970207 0.00630
NM_006767.4(LZTR1):c.201-8C>T rs183476594 0.00520
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534 0.00423
NM_006767.4(LZTR1):c.2007C>T (p.Ile669=) rs138664443 0.00386
NM_005633.4(SOS1):c.2988G>A (p.Pro996=) rs35462677 0.00156
NM_002755.4(MAP2K1):c.1137C>T (p.Ile379=) rs150841154 0.00103
NM_030662.4(MAP2K2):c.603C>T (p.Leu201=) rs148291450 0.00072
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_002524.5(NRAS):c.360G>A (p.Leu120=) rs143020946 0.00034
NM_006939.4(SOS2):c.2640A>G (p.Ser880=) rs146730136 0.00031
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 0.00029
NM_002524.5(NRAS):c.112-8A>G rs9724626 0.00025
NM_002755.4(MAP2K1):c.6C>T (p.Pro2=) rs377720622 0.00025
NM_002880.4(RAF1):c.909A>C (p.Thr303=) rs5746219 0.00025
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=) rs148656020 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_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_002880.4(RAF1):c.576A>G (p.Gln192=) rs148759910 0.00016
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala) rs150565592 0.00016
NM_006767.4(LZTR1):c.96T>C (p.His32=) rs372440263 0.00015
NM_005343.4(HRAS):c.102C>T (p.Pro34=) rs149199691 0.00014
NM_030662.3(MAP2K2):c.*8C>T rs377675706 0.00014
NM_005633.4(SOS1):c.1668A>C (p.Val556=) rs376314461 0.00013
NM_004333.6(BRAF):c.968C>T (p.Ser323Leu) rs397516907 0.00012
NM_005188.4(CBL):c.1459A>G (p.Met487Val) rs17848896 0.00012
NM_006912.6(RIT1):c.38G>A (p.Ser13Asn) rs145034964 0.00012
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454 0.00011
NM_005343.4(HRAS):c.330C>T (p.Pro110=) rs200747280 0.00011
NM_005343.4(HRAS):c.177C>T (p.Ala59=) rs730880456 0.00010
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp) rs563231684 0.00009
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe) rs201631570 0.00008
NM_004333.6(BRAF):c.1084C>A (p.Arg362=) rs397516885 0.00007
NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu) rs730881026 0.00007
NM_007373.4(SHOC2):c.363G>A (p.Glu121=) rs115713408 0.00007
NM_004333.6(BRAF):c.92C>G (p.Ala31Gly) rs397516906 0.00006
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe) rs2227986 0.00006
NM_005188.4(CBL):c.6C>G (p.Ala2=) rs770473070 0.00006
NM_006939.4(SOS2):c.1198G>A (p.Asp400Asn) rs200368064 0.00006
NM_030662.4(MAP2K2):c.450+9G>A rs375368051 0.00006
NM_030662.4(MAP2K2):c.690G>A (p.Thr230=) rs201287884 0.00005
NM_152594.3(SPRED1):c.685-8T>C rs760690837 0.00005
NM_005343.4(HRAS):c.309G>A (p.Val103=) rs575789207 0.00004
NM_005343.4(HRAS):c.363T>C (p.Ala121=) rs146440188 0.00004
NM_005633.4(SOS1):c.2156G>C (p.Gly719Ala) rs200794965 0.00004
NM_005633.4(SOS1):c.3859A>G (p.Ile1287Val) rs760917490 0.00004
NM_030662.4(MAP2K2):c.93-6C>T rs727504836 0.00004
NM_005633.4(SOS1):c.2616T>G (p.Leu872=) rs768058218 0.00003
NM_006767.4(LZTR1):c.1402C>T (p.Arg468Cys) rs374741798 0.00003
NM_006767.4(LZTR1):c.2394C>T (p.His798=) rs770445427 0.00003
NM_152594.3(SPRED1):c.163T>C (p.Cys55Arg) rs775334473 0.00003
NM_002755.4(MAP2K1):c.1005A>G (p.Gln335=) rs1057520833 0.00002
NM_002755.4(MAP2K1):c.292-8T>A rs966429123 0.00001
NM_004333.6(BRAF):c.957C>T (p.Ser319=) rs754029526 0.00001
NM_005633.4(SOS1):c.3060C>T (p.Asn1020=) rs142431345 0.00001
NM_005633.4(SOS1):c.87+9C>T rs397517179 0.00001
NM_002880.4(RAF1):c.1629G>A (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.1947G>A (p.Ter649=) rs1471833190
NM_002880.4(RAF1):c.424-5_424-3del rs764020787
NM_004333.6(BRAF):c.1203C>T (p.Thr401=) rs370130654
NM_004333.6(BRAF):c.2128-4G>T rs956143558
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.96CGC[4] (p.Ala34_Ala35dup) rs2129153215
NM_004985.5(KRAS):c.528GAA[1] (p.Lys180del) rs397517043
NM_005188.4(CBL):c.*7578TC[1] rs376134331
NM_005188.4(CBL):c.534A>G (p.Thr178=) rs1346848498
NM_005633.4(SOS1):c.2511-9del rs727503436
NM_005633.4(SOS1):c.2674-9del rs532594344
NM_006767.4(LZTR1):c.2103C>T (p.Pro701=) rs139080986
NM_007373.4(SHOC2):c.1541-7dup rs371544139
NM_030662.4(MAP2K2):c.291C>A (p.Ile97=) rs200918323
NM_033360.4(KRAS):c.*671C>T rs566222739
NM_152594.3(SPRED1):c.207+10A>G rs918390069

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