ClinVar Miner

List of variants reported as likely benign for Li-Fraumeni syndrome 1 by ClinGen TP53 Variant Curation Expert Panel, ClinGen

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.469G>A (p.Val157Ile) rs121912654 0.00004
NM_000546.6(TP53):c.868C>T (p.Arg290Cys) rs770374782 0.00004
NM_000546.6(TP53):c.998G>A (p.Arg333His) rs573154688 0.00004
NM_000546.6(TP53):c.105G>C (p.Leu35Phe) rs121912661 0.00003
NM_000546.6(TP53):c.188C>G (p.Ala63Gly) rs372201428 0.00003
NM_000546.6(TP53):c.509C>T (p.Thr170Met) rs779000871 0.00003
NM_000546.6(TP53):c.1060C>A (p.Gln354Lys) rs755394212 0.00002
NM_000546.6(TP53):c.1025G>A (p.Arg342Gln) rs375338359 0.00001
NM_000546.6(TP53):c.1066G>C (p.Gly356Arg) rs766786605 0.00001
NM_000546.6(TP53):c.1136G>A (p.Arg379His) rs863224682 0.00001
NM_000546.6(TP53):c.1150A>G (p.Met384Val) rs730882009 0.00001
NM_000546.6(TP53):c.1151T>C (p.Met384Thr) rs1060501196 0.00001
NM_000546.6(TP53):c.188C>T (p.Ala63Val) rs372201428 0.00001
NM_000546.6(TP53):c.480G>A (p.Met160Ile) rs772354334 0.00001
NM_000546.6(TP53):c.556G>A (p.Asp186Asn) rs1060501206 0.00001
NM_000546.6(TP53):c.760A>G (p.Ile254Val) rs746601313 0.00001
NM_000546.6(TP53):c.851C>T (p.Thr284Ile) rs863224685 0.00001
NM_000546.6(TP53):c.875A>G (p.Lys292Arg) rs121912663 0.00001
NM_000546.6(TP53):c.907A>G (p.Ser303Gly) rs587782391 0.00001
NM_000546.6(TP53):c.949C>A (p.Gln317Lys) rs764735889 0.00001
NM_000546.6(TP53):c.107C>A (p.Pro36Gln) rs587781866
NM_000546.6(TP53):c.1102C>T (p.His368Tyr) rs786204227
NM_000546.6(TP53):c.1135C>A (p.Arg379Ser) rs749061599
NM_000546.6(TP53):c.1136G>T (p.Arg379Leu) rs863224682
NM_000546.6(TP53):c.11C>T (p.Pro4Leu) rs878854064
NM_000546.6(TP53):c.145G>C (p.Asp49His) rs587780728
NM_000546.6(TP53):c.149T>C (p.Ile50Thr) rs370502517
NM_000546.6(TP53):c.215C>A (p.Pro72His) rs1042522
NM_000546.6(TP53):c.28G>C (p.Val10Leu) rs535274413
NM_000546.6(TP53):c.322G>A (p.Gly108Ser) rs587782461
NM_000546.6(TP53):c.344A>G (p.His115Arg) rs730881996
NM_000546.6(TP53):c.364G>A (p.Val122Met) rs587781495
NM_000546.6(TP53):c.673-5C>G rs876658684
NM_000546.6(TP53):c.779C>A (p.Ser260Tyr) rs876658916
NM_000546.6(TP53):c.866T>C (p.Leu289Pro) rs2151014987
NM_000546.6(TP53):c.997C>T (p.Arg333Cys) rs769934890

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