ClinVar Miner

List of variants reported as benign for Li-Fraumeni syndrome by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.376-283T>C rs1794287 0.84958
NM_000546.6(TP53):c.74+38C>G rs1642785 0.66254
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_000546.6(TP53):c.108G>A (p.Pro36=) rs1800370 0.00974
NM_000546.6(TP53):c.97-6C>T rs35117667 0.00847
NM_000546.6(TP53):c.782+17C>T rs17880172 0.00184
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_000546.6(TP53):c.994-17C>T rs368691910 0.00087
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.869G>A (p.Arg290His) rs55819519 0.00014
NM_000546.6(TP53):c.141G>A (p.Pro47=) rs201741778 0.00004
NM_000546.6(TP53):c.903A>G (p.Pro301=) rs72661120 0.00003
NC_000017.11:g.7668174_7668179dup rs17880560
NM_000546.6(TP53):c.63C>T (p.Asp21=) rs1800369
NM_000546.6(TP53):c.673-19G>A rs564974117
NM_000546.6(TP53):c.673-36G>C rs17880604

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