ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome with multiple lentigines

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 192
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HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.-201C>A rs532668125 0.00073
NM_002834.5(PTPN11):c.-77G>A rs766412799 0.00064
NM_002834.5(PTPN11):c.*799G>A rs745319452 0.00062
NM_002834.5(PTPN11):c.*4019C>T rs886048982 0.00051
NM_002834.5(PTPN11):c.*3971A>G rs572565511 0.00044
NM_002834.5(PTPN11):c.*2150G>T rs756441720 0.00039
NM_002880.4(RAF1):c.-209G>A rs727504351 0.00035
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456 0.00025
NM_002880.4(RAF1):c.-181T>C rs886057920 0.00022
NM_002880.4(RAF1):c.124G>A (p.Ala42Thr) rs200856000 0.00021
NM_002834.5(PTPN11):c.*687C>T rs748512308 0.00020
NM_004333.6(BRAF):c.*216T>C rs184804021 0.00020
NM_002834.5(PTPN11):c.*1806G>A rs766598691 0.00016
NM_002834.5(PTPN11):c.*720C>T rs770605810 0.00015
NM_002880.4(RAF1):c.*113T>G rs886057914 0.00015
NM_002834.5(PTPN11):c.*2731G>A rs768622106 0.00013
NM_002834.5(PTPN11):c.*50C>T rs730880328 0.00012
NM_002834.5(PTPN11):c.*2493C>T rs886048977 0.00009
NM_002834.5(PTPN11):c.*2928A>T rs565075386 0.00009
NM_002834.5(PTPN11):c.*802G>A rs753900307 0.00009
NM_002880.4(RAF1):c.*627C>T rs879160471 0.00009
NM_002880.4(RAF1):c.*630A>G rs975583754 0.00009
NM_002880.4(RAF1):c.834+598G>A rs375404697 0.00009
NM_002880.4(RAF1):c.-264C>G rs894363344 0.00008
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_002834.5(PTPN11):c.*3231T>G rs769489372 0.00006
NM_002834.5(PTPN11):c.*64C>G rs763895470 0.00006
NM_002834.5(PTPN11):c.*740C>T rs886048969 0.00006
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214 0.00006
NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe) rs730881004 0.00006
NM_002880.4(RAF1):c.-53G>A rs985291322 0.00005
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342 0.00005
NM_004333.6(BRAF):c.2196C>G (p.Ser732=) rs142592480 0.00005
NM_004333.6(BRAF):c.72G>C (p.Glu24Asp) rs587778114 0.00005
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 0.00004
NM_002880.3(RAF1):c.-354C>G rs964288487 0.00004
NM_002880.4(RAF1):c.*643C>G rs932173134 0.00004
NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro) rs923739321 0.00004
NM_002834.5(PTPN11):c.*3720T>C rs886048981 0.00003
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr) rs779236638 0.00003
NM_002834.5(PTPN11):c.1379+6A>G rs746958309 0.00003
NM_002880.4(RAF1):c.-110G>A rs886057917 0.00003
NM_002880.4(RAF1):c.600T>C (p.Thr200=) rs779808613 0.00003
NM_004333.6(BRAF):c.2140A>G (p.Ile714Val) rs555976452 0.00003
NM_002834.3(PTPN11):c.-245C>G rs886048963 0.00002
NM_002834.5(PTPN11):c.*1588C>G rs886048974 0.00002
NM_002834.5(PTPN11):c.*1616C>T rs1340461859 0.00002
NM_002834.5(PTPN11):c.*1830G>A rs1399608679 0.00002
NM_002834.5(PTPN11):c.*2608C>T rs1009588224 0.00002
NM_002834.5(PTPN11):c.1041A>G (p.Gln347=) rs766297596 0.00002
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 0.00002
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys) rs587778634 0.00002
NM_002834.5(PTPN11):c.455G>A (p.Arg152His) rs397507521 0.00002
NM_002880.4(RAF1):c.*647G>T rs1457071879 0.00002
NM_002880.4(RAF1):c.*706C>T rs1466261579 0.00002
NM_004333.6(BRAF):c.*7T>C rs727502903 0.00002
NM_004333.6(BRAF):c.1023A>G (p.Pro341=) rs56092510 0.00002
NM_002834.5(PTPN11):c.*1038G>A rs931986581 0.00001
NM_002834.5(PTPN11):c.*1332G>A rs886048973 0.00001
NM_002834.5(PTPN11):c.*1419G>A rs1435419771 0.00001
NM_002834.5(PTPN11):c.*1520C>T rs953487891 0.00001
NM_002834.5(PTPN11):c.*2096T>G rs547373116 0.00001
NM_002834.5(PTPN11):c.*2179C>T rs1269783582 0.00001
NM_002834.5(PTPN11):c.*2540G>T rs886048978 0.00001
NM_002834.5(PTPN11):c.*2907A>C rs886048979 0.00001
NM_002834.5(PTPN11):c.*3300T>C rs886048980 0.00001
NM_002834.5(PTPN11):c.*474A>G rs1198836111 0.00001
NM_002834.5(PTPN11):c.*682T>C rs1223950825 0.00001
NM_002834.5(PTPN11):c.-71C>T rs1463949594 0.00001
NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700 0.00001
NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys) rs41299183 0.00001
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys) rs191525506 0.00001
NM_002834.5(PTPN11):c.244A>G (p.Met82Val) rs397507515 0.00001
NM_002834.5(PTPN11):c.289G>C (p.Glu97Gln) rs397507516 0.00001
NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly) rs1436513335 0.00001
NM_002834.5(PTPN11):c.642G>A (p.Gln214=) rs876661383 0.00001
NM_002834.5(PTPN11):c.931A>G (p.Met311Val) rs774939392 0.00001
NM_002834.5(PTPN11):c.957C>T (p.Asn319=) rs771407775 0.00001
NM_002880.4(RAF1):c.*410A>G rs1055682241 0.00001
NM_002880.4(RAF1):c.*73T>A rs932588742 0.00001
NM_002880.4(RAF1):c.-27+7G>A rs886057916 0.00001
NM_002880.4(RAF1):c.1141G>A (p.Asp381Asn) rs559632360 0.00001
NM_002880.4(RAF1):c.31A>T (p.Ile11Phe) rs779001930 0.00001
NM_002880.4(RAF1):c.482A>G (p.Asn161Ser) rs775781057 0.00001
NM_002880.4(RAF1):c.601A>G (p.Ile201Val) rs757700986 0.00001
NM_002880.4(RAF1):c.654A>G (p.Arg218=) rs898490426 0.00001
NM_002880.4(RAF1):c.933C>T (p.Pro311=) rs1553613022 0.00001
NM_004333.6(BRAF):c.*124G>C rs1317771158 0.00001
NM_004333.6(BRAF):c.*3C>T rs746680490 0.00001
NM_004333.6(BRAF):c.-12C>T rs1390547132 0.00001
NM_004333.6(BRAF):c.-56C>T rs867823794 0.00001
NM_004333.6(BRAF):c.1061G>A (p.Arg354Gln) rs1158980679 0.00001
NM_004333.6(BRAF):c.112G>C (p.Ala38Pro) rs1011563467 0.00001
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) rs577372072 0.00001
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) rs377093637 0.00001
NM_004333.6(BRAF):c.26G>C (p.Gly9Ala) rs1211436028 0.00001
NM_004333.6(BRAF):c.316G>A (p.Gly106Arg) rs749247588 0.00001
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012 0.00001
NM_004333.6(BRAF):c.981-14C>A rs200002171 0.00001
NC_000003.12:g.12589035_12766981dup
NM_002834.3(PTPN11):c.-291G>A rs997562896
NM_002834.3(PTPN11):c.-317C>G rs373537430
NM_002834.4(PTPN11):c.-176G>T rs919391557
NM_002834.4(PTPN11):c.-179G>C rs545369072
NM_002834.5(PTPN11):c.*1015C>G rs538946251
NM_002834.5(PTPN11):c.*1035A>G rs886048970
NM_002834.5(PTPN11):c.*1157ATG[13] rs80269561
NM_002834.5(PTPN11):c.*1157ATG[16] rs80269561
NM_002834.5(PTPN11):c.*1157ATG[17] rs80269561
NM_002834.5(PTPN11):c.*1536T>G rs371375321
NM_002834.5(PTPN11):c.*1729A>G rs886048975
NM_002834.5(PTPN11):c.*1946G>A rs886048976
NM_002834.5(PTPN11):c.*2822A>G rs1164863703
NM_002834.5(PTPN11):c.*3244A>G rs763237386
NM_002834.5(PTPN11):c.*41_*46del rs886048967
NM_002834.5(PTPN11):c.*656del rs886048968
NM_002834.5(PTPN11):c.*673G>A rs2038937189
NM_002834.5(PTPN11):c.*684G>A rs1566194466
NM_002834.5(PTPN11):c.-139G>A rs886048964
NM_002834.5(PTPN11):c.-151C>A rs889190246
NM_002834.5(PTPN11):c.-161T>A rs893158717
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile) rs1214510641
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp) rs1355732645
NM_002834.5(PTPN11):c.127C>G (p.Leu43Val) rs1566164987
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.5(PTPN11):c.1361C>T (p.Pro454Leu) rs1566185599
NM_002834.5(PTPN11):c.14+8G>T rs886048965
NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu) rs2038714548
NM_002834.5(PTPN11):c.1599+4C>A rs142606486
NM_002834.5(PTPN11):c.1678C>G (p.Leu560Val) rs397516797
NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu) rs2038884191
NM_002834.5(PTPN11):c.1739A>G (p.Tyr580Cys) rs2038914051
NM_002834.5(PTPN11):c.222G>A (p.Leu74=) rs1429492147
NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys) rs397507516
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly) rs397507519
NM_002834.5(PTPN11):c.473G>C (p.Gly158Ala) rs1555267825
NM_002834.5(PTPN11):c.612A>T (p.Glu204Asp)
NM_002834.5(PTPN11):c.643-6G>A rs780387568
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del) rs397507524
NM_002834.5(PTPN11):c.770A>G (p.Gln257Arg) rs2038442309
NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys) rs763617831
NM_002834.5(PTPN11):c.853+8T>C rs886048966
NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly) rs2135901005
NM_002880.3(RAF1):c.-340_-339GA[1] rs527774250
NM_002880.4(RAF1):c.*120C>A rs1575528605
NM_002880.4(RAF1):c.*162T>C rs886057913
NM_002880.4(RAF1):c.*628G>T rs374944110
NM_002880.4(RAF1):c.*640T>C rs759464247
NM_002880.4(RAF1):c.*729AACA[4] rs371820097
NM_002880.4(RAF1):c.*729AACA[6] rs371820097
NM_002880.4(RAF1):c.-107C>T rs1451879607
NM_002880.4(RAF1):c.-139T>G rs886057918
NM_002880.4(RAF1):c.-146C>G rs886057919
NM_002880.4(RAF1):c.-204G>C rs547543588
NM_002880.4(RAF1):c.-59C>G rs201603517
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002880.4(RAF1):c.1292A>C (p.Lys431Thr) rs747632183
NM_002880.4(RAF1):c.1463G>A (p.Gly488Asp) rs865862568
NM_002880.4(RAF1):c.161C>A (p.Thr54Lys) rs754798801
NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn) rs773583951
NM_002880.4(RAF1):c.1867C>T (p.Pro623Ser) rs373596121
NM_002880.4(RAF1):c.1922C>G (p.Thr641Arg) rs587777587
NM_002880.4(RAF1):c.21T>C (p.Ala7=) rs886057915
NM_002880.4(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_002880.4(RAF1):c.231C>T (p.Ser77=) rs1450510914
NM_002880.4(RAF1):c.332G>A (p.Arg111His) rs996417348
NM_002880.4(RAF1):c.438C>A (p.Phe146Leu) rs794727717
NM_002880.4(RAF1):c.843T>A (p.Ile281=) rs2058826353
NM_004333.6(BRAF):c.*143A>G rs1585929994
NM_004333.6(BRAF):c.*203A>G rs1796208696
NM_004333.6(BRAF):c.1056T>A (p.Asp352Glu) rs1398817791
NM_004333.6(BRAF):c.1066C>G (p.Gln356Glu) rs151308995
NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp) rs1554400237
NM_004333.6(BRAF):c.1205C>A (p.Pro402His) rs199927105
NM_004333.6(BRAF):c.124G>T (p.Ala42Ser) rs2129153151
NM_004333.6(BRAF):c.1569A>G (p.Pro523=) rs759843625
NM_004333.6(BRAF):c.1897T>C (p.Tyr633His) rs746010267
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) rs1562939198
NM_004333.6(BRAF):c.1943A>G (p.Glu648Gly) rs1797600118
NM_004333.6(BRAF):c.2128-16_2128-15del rs886062015
NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT rs886062016
NM_004333.6(BRAF):c.2128-28dup rs60814637
NM_004333.6(BRAF):c.2128-4del rs886062014
NM_004333.6(BRAF):c.2128-5dup rs373442098
NM_004333.6(BRAF):c.260G>A (p.Ser87Asn) rs1033856250
NM_004333.6(BRAF):c.469G>A (p.Val157Ile) rs1258111302
NM_004333.6(BRAF):c.563G>C (p.Arg188Thr) rs1803936771
NM_004333.6(BRAF):c.940T>A (p.Ser314Thr)
NM_014160.5(MKRN2):c.*1420G>A rs1461713213
NM_014160.5(MKRN2):c.*1421T>A rs2058212896
NM_030662.4(MAP2K2):c.183A>T (p.Lys61Asn) rs886041310
NM_030662.4(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511

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