ClinVar Miner

List of variants in gene TP53 reported as likely benign for Familial cancer of breast; Li-Fraumeni syndrome 1

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala) rs35993958 0.00019
NM_000546.6(TP53):c.560-8G>C rs373797299 0.00018
NM_000546.6(TP53):c.6G>A (p.Glu2=) rs143458271 0.00009
NM_000546.6(TP53):c.1015G>A (p.Glu339Lys) rs17882252 0.00006
NM_000546.6(TP53):c.-12C>T rs375229869 0.00002
NM_000546.6(TP53):c.1073A>T (p.Glu358Val) rs773553186 0.00002
NM_000546.6(TP53):c.582T>C (p.Leu194=) rs370216745 0.00002
NM_000546.6(TP53):c.732C>T (p.Gly244=) rs759625762 0.00002
NM_000546.6(TP53):c.997C>T (p.Arg333Cys) rs769934890 0.00002
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.30C>T (p.Val10=) rs568171603 0.00001
NM_000546.6(TP53):c.566C>T (p.Ala189Val) rs121912665 0.00001
NM_000546.6(TP53):c.673-9del rs762540407 0.00001
NM_000546.6(TP53):c.877G>T (p.Gly293Trp) rs587780076 0.00001
NM_000546.6(TP53):c.147T>C (p.Asp49=) rs786201148
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.920-13G>A rs1057522354
NM_000546.6(TP53):c.922C>T (p.Leu308=) rs1555525016
NM_000546.6(TP53):c.933C>T (p.Asn311=) rs201601993
NM_000546.6(TP53):c.994-12C>T rs1057522329

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