ClinVar Miner

List of variants reported as likely benign for RASopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 207
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HGVS dbSNP gnomAD frequency
NM_033360.4(KRAS):c.*1759A>G rs4597149 0.99474
NM_033360.4(KRAS):c.*3907A>G rs8720 0.48208
NM_033360.4(KRAS):c.*633T>C rs9266 0.48177
NM_033360.4(KRAS):c.*3498C>T rs1137188 0.48161
NM_033360.4(KRAS):c.*4022A>C rs12587 0.48152
NM_033360.4(KRAS):c.*4200T>A rs12245 0.48134
NM_033360.4(KRAS):c.*3522T>A rs1137189 0.48000
NM_033360.4(KRAS):c.*3009A>G rs13096 0.45974
NM_033360.4(KRAS):c.*298T>G rs712 0.45514
NM_033360.4(KRAS):c.*3881A>C rs1137196 0.36455
NM_004985.5(KRAS):c.519T>C (p.Asp173=) rs1137282 0.19563
NM_033360.4(KRAS):c.*1708T>C rs7973450 0.19546
NM_033360.4(KRAS):c.*1204A>G rs7960917 0.18298
NM_033360.4(KRAS):c.*1776C>T rs7973623 0.18240
NM_033360.4(KRAS):c.*2626T>G rs61764370 0.06273
NM_033360.4(KRAS):c.*1094G>T rs61763590 0.06270
NM_002834.5(PTPN11):c.*1006del rs146940557 0.05739
NM_033360.4(KRAS):c.*2305A>G rs61764368 0.04337
NM_033360.4(KRAS):c.*4432A>G rs61764374 0.03798
NM_033360.4(KRAS):c.*3623T>A rs61764372 0.02189
NM_002880.4(RAF1):c.1755A>G (p.Val585=) rs3730296 0.02125
NM_005633.4(SOS1):c.*1731A>G rs79270739 0.01859
NM_002524.4(NRAS):c.-208T>A rs2273267 0.01703
NM_033360.4(KRAS):c.*1886T>C rs115968671 0.01694
NM_033360.4(KRAS):c.*3273G>A rs61764371 0.01646
NM_033360.4(KRAS):c.*945T>C rs61763589 0.01587
NM_002524.5(NRAS):c.*416A>C rs9724643 0.01360
NM_002834.5(PTPN11):c.*801C>T rs138246203 0.01271
NM_152594.3(SPRED1):c.*2885G>A rs79309779 0.01137
NM_002880.3(RAF1):c.-415-1C>G rs61730434 0.01127
NM_004333.6(BRAF):c.-19C>T rs71645935 0.01115
NM_152594.3(SPRED1):c.*3057A>G rs72725362 0.01095
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_033360.4(KRAS):c.*1183G>A rs61763591 0.00998
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_002880.4(RAF1):c.1941C>T (p.Val647=) rs3730297 0.00729
NM_005633.4(SOS1):c.*3458A>C rs114232209 0.00673
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_033360.4(KRAS):c.*525T>C rs140080026 0.00652
NM_002524.5(NRAS):c.-50A>G rs61758211 0.00647
NM_002834.5(PTPN11):c.*3043C>T rs41307084 0.00647
NM_002834.5(PTPN11):c.*3006G>A rs141870860 0.00646
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu) rs5746220 0.00571
NM_002524.5(NRAS):c.*3499C>T rs147926293 0.00568
NM_005188.4(CBL):c.*1038del rs555529036 0.00550
NM_152594.3(SPRED1):c.*3591C>T rs147489619 0.00529
NM_005633.4(SOS1):c.2167+6T>G rs186640807 0.00510
NM_033360.4(KRAS):c.*1758_*1759del rs535478558 0.00456
NM_033360.4(KRAS):c.*1661T>C rs61764366 0.00455
NM_152594.3(SPRED1):c.*1040G>A rs115568221 0.00445
NM_033360.4(KRAS):c.*2492C>T rs61764369 0.00439
NM_005633.4(SOS1):c.*3569T>C rs115465194 0.00421
NM_152594.3(SPRED1):c.*2570T>C rs111997668 0.00401
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404 0.00399
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001042492.3(NF1):c.-22G>C rs556823296 0.00381
NM_002524.5(NRAS):c.*3366G>T rs72994440 0.00380
NM_002524.5(NRAS):c.*3219C>G rs72994441 0.00379
NM_002880.4(RAF1):c.*495C>T rs12808 0.00354
NM_005633.4(SOS1):c.*2983C>T rs190454003 0.00352
NM_152594.3(SPRED1):c.*3623G>T rs148525432 0.00348
NM_005633.4(SOS1):c.*2517C>T rs150628082 0.00321
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762 0.00318
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00304
NM_002880.4(RAF1):c.*160C>T rs5746246 0.00295
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_005633.4(SOS1):c.*2160C>T rs116651056 0.00276
NM_152594.3(SPRED1):c.*3561G>A rs181980647 0.00234
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_002834.5(PTPN11):c.*775G>A rs181946923 0.00230
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_002834.5(PTPN11):c.*2078G>A rs144513512 0.00193
NM_001042492.3(NF1):c.*582T>G rs532984264 0.00169
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_002524.5(NRAS):c.*2517A>G rs554048037 0.00142
NM_002524.5(NRAS):c.*3306A>G rs189738278 0.00124
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_002524.5(NRAS):c.225C>T (p.Gly75=) rs142739534 0.00123
NM_005633.4(SOS1):c.*3592C>T rs550315455 0.00113
NM_152594.3(SPRED1):c.*4372A>G rs187788660 0.00113
NM_002880.4(RAF1):c.*110T>C rs550188508 0.00112
NM_005633.4(SOS1):c.*3367G>A rs145904123 0.00108
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225 0.00092
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_152594.3(SPRED1):c.-191C>T rs556907443 0.00088
NM_005188.3(CBL):c.-157A>G rs527849757 0.00087
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met) rs138553244 0.00074
NM_152594.3(SPRED1):c.939G>A (p.Thr313=) rs140644874 0.00070
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_005633.4(SOS1):c.*44T>C rs182657531 0.00060
NM_001042492.3(NF1):c.*2566C>T rs545937364 0.00053
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_007373.4(SHOC2):c.*1062dup rs530047047 0.00045
NM_004333.6(BRAF):c.2127+3A>G rs371976102 0.00043
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys) rs201692618 0.00042
NM_005633.4(SOS1):c.*1085A>G rs539192287 0.00039
NM_007373.4(SHOC2):c.*506_*509del rs371679867 0.00037
NM_152594.3(SPRED1):c.*633A>G rs118146919 0.00037
NM_002834.5(PTPN11):c.*838G>A rs142648640 0.00035
NM_002834.5(PTPN11):c.*1805C>T rs188162577 0.00033
NM_001042492.3(NF1):c.4851A>G (p.Gln1617=) rs150309802 0.00032
NM_002880.4(RAF1):c.321-14T>A rs3730270 0.00032
NM_005188.4(CBL):c.1287C>T (p.Ile429=) rs148368481 0.00031
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546 0.00030
NM_002524.5(NRAS):c.*2464A>G rs140878667 0.00029
NM_004333.6(BRAF):c.-5A>G rs71645936 0.00024
NM_002524.5(NRAS):c.*583T>G rs555171083 0.00022
NM_002524.5(NRAS):c.*2784T>A rs374889066 0.00021
NM_005633.4(SOS1):c.*1552T>A rs139679723 0.00021
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00020
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=) rs144091165 0.00019
NM_002880.4(RAF1):c.119G>A (p.Arg40His) rs192632236 0.00016
NM_152594.3(SPRED1):c.*2018T>G rs188392935 0.00016
NM_152594.3(SPRED1):c.*2247A>G rs118057877 0.00016
NM_002880.4(RAF1):c.*556G>A rs187286358 0.00014
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=) rs371581213 0.00013
NM_002880.4(RAF1):c.*404G>A rs150460686 0.00013
NM_002524.5(NRAS):c.*2816T>C rs370262800 0.00011
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_005633.4(SOS1):c.1647A>G (p.Thr549=) rs139683425 0.00011
NM_001042492.3(NF1):c.4724+11A>G rs368649260 0.00009
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) rs368654378 0.00009
NM_002834.3(PTPN11):c.-287G>C rs377496292 0.00009
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917 0.00009
NM_001042492.3(NF1):c.*541G>A rs563100361 0.00008
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=) rs140733963 0.00008
NM_002524.5(NRAS):c.*2327C>T rs533027827 0.00008
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202 0.00008
NM_005633.4(SOS1):c.*4221C>T rs565544523 0.00008
NM_001042492.3(NF1):c.6033A>G (p.Leu2011=) rs147995863 0.00006
NM_001042492.3(NF1):c.7870-8C>A rs372441422 0.00006
NM_002524.5(NRAS):c.36T>G (p.Gly12=) rs759764705 0.00006
NM_005633.4(SOS1):c.*1516G>A rs550823381 0.00006
NM_152594.3(SPRED1):c.*4697G>A rs188784206 0.00006
NM_001042492.3(NF1):c.1166A>G (p.His389Arg) rs149739570 0.00005
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001042492.3(NF1):c.6643-13T>C rs764601493 0.00004
NM_005188.4(CBL):c.1360A>G (p.Asn454Asp) rs371850672 0.00004
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln) rs374672276 0.00004
NM_001042492.3(NF1):c.*4T>C rs201044568 0.00003
NM_001042492.3(NF1):c.1308G>A (p.Ser436=) rs765425127 0.00003
NM_002834.5(PTPN11):c.*3381A>G rs374962107 0.00003
NM_005188.4(CBL):c.1353C>T (p.Pro451=) rs201616881 0.00003
NM_002880.4(RAF1):c.934G>A (p.Val312Met) rs555034652 0.00002
NM_001042492.3(NF1):c.2378A>C (p.Asn793Thr) rs772543826 0.00001
NM_001042492.3(NF1):c.354C>T (p.Cys118=) rs768777585 0.00001
NM_001042492.3(NF1):c.6006+4T>C rs754909198 0.00001
NM_001042492.3(NF1):c.681T>C (p.Tyr227=) rs745804540 0.00001
NM_002524.5(NRAS):c.*3500G>A rs528970050 0.00001
NM_002834.5(PTPN11):c.*329T>C rs576039073 0.00001
NM_002834.5(PTPN11):c.951G>A (p.Lys317=) rs576405446 0.00001
NM_002880.4(RAF1):c.1914G>A (p.Thr638=) rs144876026 0.00001
NM_002880.4(RAF1):c.462C>G (p.Ile154Met) rs367732360 0.00001
NM_007373.4(SHOC2):c.1215A>G (p.Val405=) rs749123957 0.00001
NM_152594.3(SPRED1):c.*5202C>T rs541213700 0.00001
NM_001042492.3(NF1):c.*125del rs397754615
NM_001042492.3(NF1):c.*2215_*2219del rs201032889
NM_001042492.3(NF1):c.*584G>C rs190144445
NM_001042492.3(NF1):c.3975-12A>G rs750100751
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_002524.5(NRAS):c.*2510_*2515del rs549171175
NM_002524.5(NRAS):c.*2965del rs61652108
NM_002755.4(MAP2K1):c.-220CG[4] rs141005341
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_002834.5(PTPN11):c.*1157ATG[14] rs80269561
NM_002834.5(PTPN11):c.*1536T>C rs371375321
NM_002834.5(PTPN11):c.*2629A>G rs141655134
NM_002880.4(RAF1):c.*606A>G rs556460176
NM_002880.4(RAF1):c.-267G>A rs116247741
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.321-14dup rs202103447
NM_004333.6(BRAF):c.*111C>T rs539860876
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_005188.4(CBL):c.*3241dup rs79093187
NM_005188.4(CBL):c.*5986del rs541615597
NM_005188.4(CBL):c.*8288GTTA[1] rs563997189
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_005188.4(CBL):c.1228-10dup rs397517078
NM_005188.4(CBL):c.1629A>G (p.Pro543=) rs558577411
NM_005633.4(SOS1):c.*1333_*1336dup rs35969619
NM_005633.4(SOS1):c.*1606del rs34248802
NM_005633.4(SOS1):c.*2138G>T rs184227916
NM_005633.4(SOS1):c.*2244_*2245dup rs3832123
NM_005633.4(SOS1):c.*2439del rs377250198
NM_005633.4(SOS1):c.*2574A>G rs539933930
NM_005633.4(SOS1):c.*399_*400insCA rs144104838
NM_007373.4(SHOC2):c.*1775del rs527775221
NM_007373.4(SHOC2):c.703+15ATT[3] rs370351651
NM_033360.4(KRAS):c.*1539_*1541del rs200038818
NM_033360.4(KRAS):c.*1748dup rs71065923
NM_033360.4(KRAS):c.*2400dup rs56128001
NM_033360.4(KRAS):c.*3385del rs34176876
NM_033360.4(KRAS):c.*3804dup rs142323886
NM_033360.4(KRAS):c.*4186_*4187del rs34719539
NM_033360.4(KRAS):c.*4426_*4427dup rs61764373
NM_152594.3(SPRED1):c.*1659_*1662del rs57589132
NM_152594.3(SPRED1):c.*2611C>T rs181716461
NM_152594.3(SPRED1):c.*5090dup rs141174183
NM_152594.3(SPRED1):c.*581T>C rs541503324
NM_152594.3(SPRED1):c.-156del rs531519324

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