ClinVar Miner

List of variants reported as likely benign for Li-Fraumeni syndrome by Genome-Nilou Lab

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 210
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_000546.6(TP53):c.1100+30A>T rs17880847 0.00929
NM_000546.6(TP53):c.672+31A>G rs34949160 0.00479
NM_000546.6(TP53):c.782+17C>T rs17880172 0.00184
NM_000546.6(TP53):c.994-17C>T rs368691910 0.00087
NM_000546.6(TP53):c.783-33T>C rs113302588 0.00051
NM_000546.6(TP53):c.216C>T (p.Pro72=) rs56275308 0.00022
NM_000546.6(TP53):c.1014C>T (p.Phe338=) rs150293825 0.00018
NM_000546.6(TP53):c.560-8G>C rs373797299 0.00018
NM_000546.6(TP53):c.74+14T>C rs184743157 0.00018
NM_000546.6(TP53):c.648G>C (p.Val216=) rs199693249 0.00017
NM_000546.6(TP53):c.672+18G>C rs199578278 0.00014
NM_000546.6(TP53):c.673-37C>T rs374907737 0.00010
NM_000546.6(TP53):c.474C>T (p.Arg158=) rs139200646 0.00009
NM_000546.6(TP53):c.6G>A (p.Glu2=) rs143458271 0.00009
NM_000546.6(TP53):c.993+310G>A rs201293647 0.00007
NM_000546.6(TP53):c.618G>A (p.Leu206=) rs142813240 0.00006
NM_000546.6(TP53):c.920-17C>A rs911934766 0.00006
NM_000546.6(TP53):c.97-28T>A rs200989844 0.00006
NM_000546.6(TP53):c.993+234G>A rs17883348 0.00006
NM_000546.6(TP53):c.75-41C>T rs569425726 0.00005
NM_000546.6(TP53):c.102C>G (p.Pro34=) rs11575998 0.00004
NM_000546.6(TP53):c.1149C>T (p.Leu383=) rs373710656 0.00004
NM_000546.6(TP53):c.141G>A (p.Pro47=) rs201741778 0.00004
NM_000546.6(TP53):c.246G>A (p.Pro82=) rs372397095 0.00004
NM_000546.6(TP53):c.255T>C (p.Pro85=) rs775515332 0.00004
NM_000546.6(TP53):c.376-18dup rs756417643 0.00004
NM_000546.6(TP53):c.450A>G (p.Thr150=) rs754020850 0.00004
NM_000546.6(TP53):c.504C>T (p.His168=) rs746293837 0.00004
NM_000546.6(TP53):c.672+15T>C rs140756213 0.00004
NM_000546.6(TP53):c.993+227A>C rs764562217 0.00004
NM_000546.6(TP53):c.993+312C>T rs756952434 0.00004
NM_000546.6(TP53):c.1119G>A (p.Lys373=) rs1342613419 0.00003
NM_000546.6(TP53):c.1149C>A (p.Leu383=) rs373710656 0.00003
NM_000546.6(TP53):c.180A>C (p.Pro60=) rs749289195 0.00003
NM_000546.6(TP53):c.30C>T (p.Val10=) rs568171603 0.00003
NM_000546.6(TP53):c.459C>T (p.Pro153=) rs72661116 0.00003
NM_000546.6(TP53):c.903A>G (p.Pro301=) rs72661120 0.00003
NM_000546.6(TP53):c.-12C>T rs375229869 0.00002
NM_000546.6(TP53):c.18A>C (p.Ser6=) rs573130482 0.00002
NM_000546.6(TP53):c.234A>G (p.Ala78=) rs375099397 0.00002
NM_000546.6(TP53):c.249G>A (p.Ala83=) rs55754907 0.00002
NM_000546.6(TP53):c.468C>T (p.Arg156=) rs761222871 0.00002
NM_000546.6(TP53):c.510G>A (p.Thr170=) rs757544615 0.00002
NM_000546.6(TP53):c.555C>T (p.Ser185=) rs367560109 0.00002
NM_000546.6(TP53):c.582T>C (p.Leu194=) rs370216745 0.00002
NM_000546.6(TP53):c.612G>A (p.Glu204=) rs749629973 0.00002
NM_000546.6(TP53):c.732C>T (p.Gly244=) rs759625762 0.00002
NM_000546.6(TP53):c.1008G>A (p.Glu336=) rs1555524453 0.00001
NM_000546.6(TP53):c.1023C>T (p.Phe341=) rs864622369 0.00001
NM_000546.6(TP53):c.1131C>T (p.Thr377=) rs1456836660 0.00001
NM_000546.6(TP53):c.123T>C (p.Asp41=) rs369129220 0.00001
NM_000546.6(TP53):c.12G>A (p.Pro4=) rs876658274 0.00001
NM_000546.6(TP53):c.144C>T (p.Asp48=) rs587781460 0.00001
NM_000546.6(TP53):c.222C>T (p.Ala74=) rs786201577 0.00001
NM_000546.6(TP53):c.267C>T (p.Pro89=) rs786201443 0.00001
NM_000546.6(TP53):c.270C>T (p.Ser90=) rs863224370 0.00001
NM_000546.6(TP53):c.27C>T (p.Ser9=) rs757282628 0.00001
NM_000546.6(TP53):c.282A>G (p.Ser94=) rs771721337 0.00001
NM_000546.6(TP53):c.321C>T (p.Tyr107=) rs770776262 0.00001
NM_000546.6(TP53):c.331C>T (p.Leu111=) rs1403707528 0.00001
NM_000546.6(TP53):c.354A>T (p.Thr118=) rs751978853 0.00001
NM_000546.6(TP53):c.375+13G>A rs758658664 0.00001
NM_000546.6(TP53):c.375+16G>A rs750477922 0.00001
NM_000546.6(TP53):c.376-17C>T rs376713749 0.00001
NM_000546.6(TP53):c.390C>T (p.Leu130=) rs781537596 0.00001
NM_000546.6(TP53):c.408A>G (p.Gln136=) rs758781593 0.00001
NM_000546.6(TP53):c.45T>C (p.Ser15=) rs766765429 0.00001
NM_000546.6(TP53):c.462C>T (p.Gly154=) rs137852793 0.00001
NM_000546.6(TP53):c.54A>G (p.Thr18=) rs876659984 0.00001
NM_000546.6(TP53):c.559+20G>A rs547244762 0.00001
NM_000546.6(TP53):c.606T>C (p.Arg202=) rs1392931620 0.00001
NM_000546.6(TP53):c.60A>G (p.Ser20=) rs786201754 0.00001
NM_000546.6(TP53):c.633T>G (p.Thr211=) rs976434163 0.00001
NM_000546.6(TP53):c.673-9del rs762540407 0.00001
NM_000546.6(TP53):c.74+8G>A rs776933919 0.00001
NM_000546.6(TP53):c.75-14C>T rs747908393 0.00001
NM_000546.6(TP53):c.75-18T>G rs1273569924 0.00001
NM_000546.6(TP53):c.769C>T (p.Leu257=) rs779761818 0.00001
NM_000546.6(TP53):c.782+10C>T rs200277687 0.00001
NM_000546.6(TP53):c.783-11A>G rs771914358 0.00001
NM_000546.6(TP53):c.783-14C>T rs774987850 0.00001
NM_000546.6(TP53):c.783-34C>T rs376988747 0.00001
NM_000546.6(TP53):c.855G>A (p.Glu285=) rs1487868349 0.00001
NM_000546.6(TP53):c.867C>T (p.Leu289=) rs778138282 0.00001
NM_000546.6(TP53):c.885T>C (p.Pro295=) rs200073907 0.00001
NM_000546.6(TP53):c.891C>T (p.His297=) rs750578863 0.00001
NM_000546.6(TP53):c.894G>A (p.Glu298=) rs756123992 0.00001
NM_000546.6(TP53):c.90C>T (p.Asn30=) rs370992294 0.00001
NM_000546.6(TP53):c.919+15C>G rs1057523528 0.00001
NM_000546.6(TP53):c.919+7A>C rs199527475 0.00001
NM_000546.6(TP53):c.919+9G>A rs772829199 0.00001
NM_000546.6(TP53):c.920-14T>C rs752627700 0.00001
NM_000546.6(TP53):c.97-17T>C rs374547451 0.00001
NM_000546.6(TP53):c.993+290T>C rs1642789 0.00001
NM_000546.6(TP53):c.994-5T>C rs375273756 0.00001
NM_000546.6(TP53):c.*1070C>T rs114831472
NM_000546.6(TP53):c.1002G>A (p.Gly334=) rs786203531
NM_000546.6(TP53):c.1030C>T (p.Leu344=) rs1597349242
NM_000546.6(TP53):c.1041C>G (p.Ala347=) rs1450229137
NM_000546.6(TP53):c.1062G>A (p.Gln354=) rs1382535379
NM_000546.6(TP53):c.1083G>A (p.Gly361=) rs886038349
NM_000546.6(TP53):c.1100+12C>G rs1567541617
NM_000546.6(TP53):c.1104C>T (p.His368=) rs1289241865
NM_000546.6(TP53):c.111C>G (p.Ser37=) rs1555526798
NM_000546.6(TP53):c.1125G>A (p.Gln375=) rs764011631
NM_000546.6(TP53):c.1131C>A (p.Thr377=) rs1456836660
NM_000546.6(TP53):c.1137C>T (p.Arg379=) rs786202368
NM_000546.6(TP53):c.1161A>G (p.Thr387=) rs1131691017
NM_000546.6(TP53):c.147T>C (p.Asp49=) rs786201148
NM_000546.6(TP53):c.168A>G (p.Glu56=) rs574255227
NM_000546.6(TP53):c.171C>T (p.Asp57=) rs587782776
NM_000546.6(TP53):c.189T>C (p.Ala63=) rs2151042122
NM_000546.6(TP53):c.18A>G (p.Ser6=) rs573130482
NM_000546.6(TP53):c.192C>G (p.Pro64=) rs1555526723
NM_000546.6(TP53):c.201A>G (p.Pro67=) rs786203912
NM_000546.6(TP53):c.204G>A (p.Glu68=) rs746814615
NM_000546.6(TP53):c.207T>C (p.Ala69=) rs775185978
NM_000546.6(TP53):c.210T>A (p.Ala70=) rs786203513
NM_000546.6(TP53):c.210T>C (p.Ala70=) rs786203513
NM_000546.6(TP53):c.213C>T (p.Pro71=) rs1555526701
NM_000546.6(TP53):c.215_216delinsGT (p.Pro72Arg) rs878854066
NM_000546.6(TP53):c.219G>T (p.Val73=) rs1567556473
NM_000546.6(TP53):c.264C>T (p.Ala88=) rs876660951
NM_000546.6(TP53):c.267C>A (p.Pro89=) rs786201443
NM_000546.6(TP53):c.279G>T (p.Leu93=) rs878854067
NM_000546.6(TP53):c.285T>G (p.Ser95=) rs876658696
NM_000546.6(TP53):c.297C>T (p.Ser99=) rs751494750
NM_000546.6(TP53):c.30C>G (p.Val10=) rs568171603
NM_000546.6(TP53):c.330T>C (p.Arg110=) rs1060504167
NM_000546.6(TP53):c.336C>A (p.Gly112=) rs876659177
NM_000546.6(TP53):c.351G>A (p.Gly117=) rs876658998
NM_000546.6(TP53):c.375+18G>A rs1567555404
NM_000546.6(TP53):c.376-14T>G rs2073407763
NM_000546.6(TP53):c.376-160_376-158del rs5819162
NM_000546.6(TP53):c.376-19C>T rs1057521606
NM_000546.6(TP53):c.376-7C>T rs1555526345
NM_000546.6(TP53):c.402T>C (p.Phe134=) rs1555526278
NM_000546.6(TP53):c.405C>T (p.Cys135=) rs1057519976
NM_000546.6(TP53):c.411G>C (p.Leu137=) rs876660731
NM_000546.6(TP53):c.42G>A (p.Leu14=) rs773918872
NM_000546.6(TP53):c.42G>C (p.Leu14=) rs773918872
NM_000546.6(TP53):c.432G>A (p.Gln144=) rs786201419
NM_000546.6(TP53):c.450A>C (p.Thr150=) rs754020850
NM_000546.6(TP53):c.456G>A (p.Pro152=) rs876659481
NM_000546.6(TP53):c.465C>A (p.Thr155=) rs786202992
NM_000546.6(TP53):c.471C>A (p.Val157=) rs1057522496
NM_000546.6(TP53):c.483C>A (p.Ala161=) rs1057523101
NM_000546.6(TP53):c.492G>A (p.Lys164=) rs1131691034
NM_000546.6(TP53):c.498A>G (p.Ser166=) rs1555526098
NM_000546.6(TP53):c.510G>T (p.Thr170=) rs757544615
NM_000546.6(TP53):c.513G>A (p.Glu171=) rs1555526078
NM_000546.6(TP53):c.531C>G (p.Pro177=) rs1597369785
NM_000546.6(TP53):c.531C>T (p.Pro177=) rs1597369785
NM_000546.6(TP53):c.537T>C (p.His179=) rs876660821
NM_000546.6(TP53):c.543C>T (p.Arg181=) rs876659582
NM_000546.6(TP53):c.549A>G (p.Ser183=) rs1597369559
NM_000546.6(TP53):c.558T>A (p.Asp186Glu) rs375275361
NM_000546.6(TP53):c.558T>C (p.Asp186=) rs375275361
NM_000546.6(TP53):c.559+13G>A rs56226808
NM_000546.6(TP53):c.560-14C>A rs1567552335
NM_000546.6(TP53):c.567C>T (p.Ala189=) rs55764374
NM_000546.6(TP53):c.615T>C (p.Tyr205=) rs786202222
NM_000546.6(TP53):c.630C>T (p.Asn210=) rs1555525791
NM_000546.6(TP53):c.637C>A (p.Arg213=) rs397516436
NM_000546.6(TP53):c.651G>T (p.Val217=) rs1555525747
NM_000546.6(TP53):c.654G>A (p.Val218=) rs753630563
NM_000546.6(TP53):c.657C>A (p.Pro219=) rs786201859
NM_000546.6(TP53):c.666G>A (p.Pro222=) rs72661118
NM_000546.6(TP53):c.666G>T (p.Pro222=) rs72661118
NM_000546.6(TP53):c.672+48G>A rs17884607
NM_000546.6(TP53):c.672+48G>T rs17884607
NM_000546.6(TP53):c.673-19G>A rs564974117
NM_000546.6(TP53):c.687T>C (p.Cys229=) rs2151022242
NM_000546.6(TP53):c.699C>T (p.His233=) rs2151022006
NM_000546.6(TP53):c.717C>T (p.Asn239=) rs1057522275
NM_000546.6(TP53):c.741C>T (p.Asn247=) rs786202448
NM_000546.6(TP53):c.75-17C>A rs910296194
NM_000546.6(TP53):c.753C>T (p.Ile251=) rs878854074
NM_000546.6(TP53):c.768A>G (p.Thr256=) rs786203563
NM_000546.6(TP53):c.782+14T>G rs1437756379
NM_000546.6(TP53):c.782+3C>T rs1555525425
NM_000546.6(TP53):c.78T>C (p.Leu26=) rs934176141
NM_000546.6(TP53):c.801G>A (p.Arg267=) rs1597362195
NM_000546.6(TP53):c.81T>C (p.Pro27=) rs1555526932
NM_000546.6(TP53):c.831T>C (p.Cys277=) rs1057523347
NM_000546.6(TP53):c.838A>C (p.Arg280=) rs753660142
NM_000546.6(TP53):c.843C>T (p.Asp281=) rs1057519984
NM_000546.6(TP53):c.846G>A (p.Arg282=) rs1555525211
NM_000546.6(TP53):c.852A>C (p.Thr284=) rs786203004
NM_000546.6(TP53):c.900C>T (p.Pro300=) rs767356182
NM_000546.6(TP53):c.912T>C (p.Thr304=) rs1555525052
NM_000546.6(TP53):c.919+17A>G rs1057520386
NM_000546.6(TP53):c.919+19_919+21del rs1064794839
NM_000546.6(TP53):c.920-13G>C rs1057522354
NM_000546.6(TP53):c.920-4C>T rs1555525022
NM_000546.6(TP53):c.924G>A (p.Leu308=) rs786202546
NM_000546.6(TP53):c.933C>T (p.Asn311=) rs201601993
NM_000546.6(TP53):c.93T>G (p.Val31=) rs1406108270
NM_000546.6(TP53):c.94C>T (p.Leu32=) rs1555526920
NM_000546.6(TP53):c.951G>A (p.Gln317=) rs1060501199
NM_000546.6(TP53):c.96+15_96+31del rs730882011
NM_000546.6(TP53):c.96+15_96+31delinsC rs1064795134
NM_000546.6(TP53):c.97-11C>T rs769697802
NM_000546.6(TP53):c.975A>G (p.Gly325=) rs1245012034
NM_000546.6(TP53):c.993+223T>G rs3021068
NM_000546.6(TP53):c.993+326_993+341del rs730882013
NM_000546.6(TP53):c.994-12C>T rs1057522329
NM_000546.6(TP53):c.996C>T (p.Ile332=) rs1555524470
NM_000546.6(TP53):c.9G>A (p.Glu3=) rs1555527028

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