ClinVar Miner

List of variants studied for Li-Fraumeni syndrome 1 by Counsyl

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ClinVar version:
Total variants: 100
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HGVS dbSNP
NM_000546.5(TP53):c.*1175A>C rs78378222
NM_000546.5(TP53):c.1000G>C (p.Gly334Arg) rs730882028
NM_000546.5(TP53):c.1010G>A (p.Arg337His) rs121912664
NM_000546.5(TP53):c.1023C>T (p.Phe341=) rs864622369
NM_000546.5(TP53):c.1060C>A (p.Gln354Lys) rs755394212
NM_000546.5(TP53):c.1079G>C (p.Gly360Ala) rs35993958
NM_000546.5(TP53):c.107C>A (p.Pro36Gln) rs587781866
NM_000546.5(TP53):c.1135C>A (p.Arg379Ser) rs749061599
NM_000546.5(TP53):c.1136G>A (p.Arg379His) rs863224682
NM_000546.5(TP53):c.1149C>T (p.Leu383=) rs373710656
NM_000546.5(TP53):c.1151T>C (p.Met384Thr) rs1060501196
NM_000546.5(TP53):c.11C>T (p.Pro4Leu) rs878854064
NM_000546.5(TP53):c.145G>C (p.Asp49His) rs587780728
NM_000546.5(TP53):c.149T>C (p.Ile50Thr) rs370502517
NM_000546.5(TP53):c.171C>A (p.Asp57Glu) rs587782776
NM_000546.5(TP53):c.173C>G (p.Pro58Arg) rs144386518
NM_000546.5(TP53):c.180A>C (p.Pro60=) rs749289195
NM_000546.5(TP53):c.188C>T (p.Ala63Val) rs372201428
NM_000546.5(TP53):c.214C>G (p.Pro72Ala) rs587782769
NM_000546.5(TP53):c.214_215delinsTG (p.Pro72Cys) rs730882014
NM_000546.5(TP53):c.222C>T (p.Ala74=) rs786201577
NM_000546.5(TP53):c.234A>G (p.Ala78=) rs375099397
NM_000546.5(TP53):c.248C>T (p.Ala83Val) rs201717599
NM_000546.5(TP53):c.249G>A (p.Ala83=) rs55754907
NM_000546.5(TP53):c.250G>A (p.Ala84Thr) rs587781307
NM_000546.5(TP53):c.255T>C (p.Pro85=) rs775515332
NM_000546.5(TP53):c.28G>A (p.Val10Ile) rs535274413
NM_000546.5(TP53):c.30C>T (p.Val10=) rs568171603
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578
NM_000546.5(TP53):c.31G>A (p.Glu11Lys) rs201382018
NM_000546.5(TP53):c.329G>A (p.Arg110His) rs11540654
NM_000546.5(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_000546.5(TP53):c.375+17G>A rs765179201
NM_000546.5(TP53):c.376-18dup rs756417643
NM_000546.5(TP53):c.38dup (p.Leu14fs) rs1555527002
NM_000546.5(TP53):c.399G>A (p.Met133Ile) rs1064795139
NM_000546.5(TP53):c.408A>G (p.Gln136=) rs758781593
NM_000546.5(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.5(TP53):c.461G>A (p.Gly154Asp) rs762846821
NM_000546.5(TP53):c.466C>T (p.Arg156Cys) rs563378859
NM_000546.5(TP53):c.473G>A (p.Arg158His) rs587782144
NM_000546.5(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.5(TP53):c.509C>T (p.Thr170Met) rs779000871
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_000546.5(TP53):c.542G>A (p.Arg181His) rs397514495
NM_000546.5(TP53):c.554G>A (p.Ser185Asn) rs150607408
NM_000546.5(TP53):c.566C>T (p.Ala189Val) rs121912665
NM_000546.5(TP53):c.572C>G (p.Pro191Arg) rs587778718
NM_000546.5(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.5(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.5(TP53):c.639A>G (p.Arg213=) rs1800372
NM_000546.5(TP53):c.642T>G (p.His214Gln) rs587781386
NM_000546.5(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.5(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_000546.5(TP53):c.665C>T (p.Pro222Leu) rs146340390
NM_000546.5(TP53):c.666G>T (p.Pro222=) rs72661118
NM_000546.5(TP53):c.672+15T>C rs140756213
NM_000546.5(TP53):c.672+18G>C rs199578278
NM_000546.5(TP53):c.673-36G>C rs17880604
NM_000546.5(TP53):c.673-37C>T rs374907737
NM_000546.5(TP53):c.6G>A (p.Glu2=) rs143458271
NM_000546.5(TP53):c.704A>G (p.Asn235Ser) rs144340710
NM_000546.5(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.74+14T>C rs184743157
NM_000546.5(TP53):c.74+9A>C rs1057517593
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.768A>G (p.Thr256=) rs786203563
NM_000546.5(TP53):c.776A>T (p.Asp259Val) rs745425759
NM_000546.5(TP53):c.782+12C>T rs17881780
NM_000546.5(TP53):c.783-13C>G rs1555525373
NM_000546.5(TP53):c.787A>G (p.Asn263Asp) rs72661119
NM_000546.5(TP53):c.794T>C (p.Leu265Pro) rs879253942
NM_000546.5(TP53):c.800G>A (p.Arg267Gln) rs587780075
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.877G>T (p.Gly293Trp) rs587780076
NM_000546.5(TP53):c.885T>C (p.Pro295=) rs200073907
NM_000546.5(TP53):c.892G>A (p.Glu298Lys) rs201744589
NM_000546.5(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000546.5(TP53):c.935C>G (p.Thr312Ser) rs145151284
NM_000546.5(TP53):c.97-15T>C rs1555526843
NM_000546.5(TP53):c.97-28T>A rs200989844
NM_000546.5(TP53):c.97-9C>T rs202217267
NM_000546.5(TP53):c.993+12T>C rs1800899
NM_000546.5(TP53):c.993+13G>C rs369599972
NM_000546.5(TP53):c.993+234G>A rs17883348
NM_000546.5(TP53):c.993+244G>A rs576532147
NM_000546.5(TP53):c.993+326_993+341del rs730882013
NM_000546.5(TP53):c.994-17C>T rs368691910
NM_000546.5(TP53):c.998G>A (p.Arg333His) rs573154688
NM_001126112.2(TP53):c.283_285TCT[1] (p.Ser96del) rs878854068
NM_001126113.2(TP53):c.1009C>T (p.Arg337Ter) rs554738122
NM_001126113.2(TP53):c.1015T>C (p.Cys339Arg) rs1642789
NM_001126113.2(TP53):c.1034_1036CGT[1] (p.Ser346del) rs1555524872
NM_001126114.2(TP53):c.1021T>G (p.Cys341Gly) rs3021068
NM_001126114.2(TP53):c.1025A>C (p.Ter342Ser) rs764562217

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