ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.*1303C>A rs115153488 0.00308
NM_005633.4(SOS1):c.*4023T>C rs1043800 0.00233
NM_005633.4(SOS1):c.*534C>T rs773935049 0.00089
NM_005633.4(SOS1):c.*559C>T rs572880679 0.00059
NM_005633.4(SOS1):c.*3989G>C rs751112874 0.00052
NM_005633.4(SOS1):c.*4014T>C rs186738827 0.00040
NM_002880.4(RAF1):c.-209G>A rs727504351 0.00035
NM_002880.4(RAF1):c.-181T>C rs886057920 0.00022
NM_005633.4(SOS1):c.*3252A>C rs769883659 0.00020
NM_005633.4(SOS1):c.*185A>G rs556367844 0.00018
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser) rs142863840 0.00018
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127 0.00017
NM_005633.4(SOS1):c.3347-1G>A rs141565234 0.00017
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734 0.00016
NM_002880.4(RAF1):c.834+598G>A rs375404697 0.00009
NM_005633.4(SOS1):c.*1641A>G rs760193823 0.00009
NM_005633.4(SOS1):c.7G>T (p.Ala3Ser) rs533757634 0.00009
NM_002880.4(RAF1):c.-264C>G rs894363344 0.00008
NM_005633.4(SOS1):c.*1477G>A rs1029291502 0.00008
NM_005633.4(SOS1):c.*421A>G rs973373222 0.00008
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
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_005633.4(SOS1):c.3769A>G (p.Thr1257Ala) rs553805862 0.00006
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342 0.00005
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 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_005633.4(SOS1):c.1720G>A (p.Val574Ile) rs727504641 0.00004
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys) rs768113420 0.00004
NM_005633.4(SOS1):c.382G>A (p.Val128Ile) rs752402979 0.00004
NM_005633.4(SOS1):c.3857C>T (p.Ser1286Phe) rs374341202 0.00004
NM_006767.4(LZTR1):c.1942+3A>G rs763690028 0.00004
NM_006939.4(SOS2):c.257C>T (p.Ala86Val) rs146272145 0.00004
NM_006939.4(SOS2):c.532C>G (p.Gln178Glu) rs770603835 0.00004
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr) rs779236638 0.00003
NM_004333.6(BRAF):c.2140A>G (p.Ile714Val) rs555976452 0.00003
NM_005633.4(SOS1):c.1672A>G (p.Met558Val) rs371295853 0.00003
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_005633.4(SOS1):c.1010A>G (p.Tyr337Cys) rs724160007 0.00002
NM_005633.4(SOS1):c.169A>T (p.Asn57Tyr) rs765764610 0.00002
NM_005633.4(SOS1):c.2369T>C (p.Leu790Ser) rs139859866 0.00002
NM_005633.4(SOS1):c.3148A>G (p.Met1050Val) rs886041814 0.00002
NM_005633.4(SOS1):c.3592A>G (p.Ile1198Val) rs747534810 0.00002
NM_006939.4(SOS2):c.2384+5A>G rs376903120 0.00002
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00002
NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser) rs771613524 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.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.482A>G (p.Asn161Ser) rs775781057 0.00001
NM_002880.4(RAF1):c.601A>G (p.Ile201Val) rs757700986 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.437G>A (p.Arg146Gln) rs557241012 0.00001
NM_005633.4(SOS1):c.1075-16C>T rs112540686 0.00001
NM_005633.4(SOS1):c.1266G>A (p.Met422Ile) rs1212129369 0.00001
NM_005633.4(SOS1):c.1303A>G (p.Lys435Glu) rs138920742 0.00001
NM_005633.4(SOS1):c.1564A>C (p.Asn522His) rs761094509 0.00001
NM_005633.4(SOS1):c.1627T>C (p.Ser543Pro) rs981234810 0.00001
NM_005633.4(SOS1):c.1640G>A (p.Arg547Gln) rs149775695 0.00001
NM_005633.4(SOS1):c.1983A>G (p.Ile661Met) rs747203627 0.00001
NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys) rs757094189 0.00001
NM_005633.4(SOS1):c.213+9A>G rs553097014 0.00001
NM_005633.4(SOS1):c.2158A>G (p.Thr720Ala) rs367634525 0.00001
NM_005633.4(SOS1):c.2351T>C (p.Ile784Thr) rs1335137808 0.00001
NM_005633.4(SOS1):c.3197G>C (p.Ser1066Thr) rs1428068201 0.00001
NM_005633.4(SOS1):c.3524A>C (p.His1175Pro) rs730881035 0.00001
NM_005633.4(SOS1):c.3662G>C (p.Arg1221Thr) rs768987761 0.00001
NM_005633.4(SOS1):c.3707C>T (p.Pro1236Leu) rs533661246 0.00001
NM_005633.4(SOS1):c.3721A>G (p.Lys1241Glu) rs367693130 0.00001
NM_005633.4(SOS1):c.3763C>A (p.Pro1255Thr) rs972166211 0.00001
NM_005633.4(SOS1):c.3902A>G (p.His1301Arg) rs771396497 0.00001
NM_005633.4(SOS1):c.3905T>C (p.Ile1302Thr) rs750296853 0.00001
NM_005633.4(SOS1):c.638G>A (p.Arg213Gln) rs374761537 0.00001
NM_005633.4(SOS1):c.643T>C (p.Tyr215His) rs730881039 0.00001
NM_005633.4(SOS1):c.754A>C (p.Ile252Leu) rs1158811958 0.00001
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu) rs747376042 0.00001
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) rs375724784 0.00001
NM_006912.6(RIT1):c.575C>T (p.Ala192Val) rs376391961 0.00001
NM_006939.4(SOS2):c.1747A>G (p.Asn583Asp) rs1388854755 0.00001
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) rs772746106 0.00001
NM_002524.5(NRAS):c.25G>A (p.Val9Ile) rs1553244682
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
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.1498C>G (p.Gln500Glu) rs2038714548
NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu) rs2038884191
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.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.865A>G (p.Arg289Gly) rs2135901005
NM_002880.4(RAF1):c.-59C>G rs201603517
NM_002880.4(RAF1):c.1463G>A (p.Gly488Asp) rs865862568
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.438C>A (p.Phe146Leu) rs794727717
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.1940A>G (p.Tyr647Cys) rs1562939198
NM_004333.6(BRAF):c.260G>A (p.Ser87Asn) rs1033856250
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) rs1951383854
NM_005633.4(SOS1):c.*1535G>A rs1668487434
NM_005633.4(SOS1):c.*1694del rs767903412
NM_005633.4(SOS1):c.*3149C>T rs541644361
NM_005633.4(SOS1):c.*4077G>T rs763838346
NM_005633.4(SOS1):c.1098T>A (p.Asp366Glu) rs730881040
NM_005633.4(SOS1):c.1286T>C (p.Ile429Thr) rs755862687
NM_005633.4(SOS1):c.1670C>T (p.Thr557Ile) rs1245953394
NM_005633.4(SOS1):c.1770G>C (p.Glu590Asp) rs553331572
NM_005633.4(SOS1):c.23A>T (p.Tyr8Phe) rs781093356
NM_005633.4(SOS1):c.25G>A (p.Glu9Lys) rs1347187972
NM_005633.4(SOS1):c.3242A>G (p.Asn1081Ser) rs992722303
NM_005633.4(SOS1):c.3598_3599delinsAC (p.Asp1200Thr) rs1572796492
NM_005633.4(SOS1):c.3956T>G (p.Met1319Arg) rs730881036
NM_005633.4(SOS1):c.487A>G (p.Lys163Glu) rs886042206
NM_005633.4(SOS1):c.742C>T (p.Arg248Cys) rs1671008126
NM_005633.4(SOS1):c.87+6G>T rs777383378
NM_005633.4(SOS1):c.976-3dup rs745490729
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His) rs935736801
NM_006912.6(RIT1):c.11G>A (p.Gly4Glu) rs2102591253
NM_006939.4(SOS2):c.1861T>G (p.Phe621Val) rs1555370029
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
NM_033360.4(KRAS):c.*101_*106del rs1339924833

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