ClinVar Miner

List of variants reported as uncertain significance for Li-Fraumeni syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.*1132C>T rs1044102603 0.00035
NM_000546.6(TP53):c.*760T>C rs935743951 0.00011
NM_000546.6(TP53):c.1015G>A (p.Glu339Lys) rs17882252 0.00006
NM_000546.6(TP53):c.782+12C>T rs17881780 0.00005
NM_000546.6(TP53):c.*327C>T rs886053512 0.00002
NM_000546.6(TP53):c.-22G>A rs1348969852 0.00001
NM_000546.6(TP53):c.-94C>T rs886053515 0.00001
NM_000546.6(TP53):c.145G>A (p.Asp49Asn) rs587780728 0.00001
NM_000546.6(TP53):c.74+9A>C rs1057517593 0.00001
NM_000546.6(TP53):c.96+15T>C rs200053580 0.00001
NM_000546.6(TP53):c.*1160T>G rs886053499
NM_000546.6(TP53):c.*144G>A rs371002418
NM_000546.6(TP53):c.*168C>T rs2072818956
NM_000546.6(TP53):c.*346G>T rs886053511
NM_000546.6(TP53):c.*347T>C rs886053510
NM_000546.6(TP53):c.*382C>T rs886053509
NM_000546.6(TP53):c.*548G>T rs886053508
NM_000546.6(TP53):c.*565G>T rs886053507
NM_000546.6(TP53):c.*626C>T rs886053506
NM_000546.6(TP53):c.*735C>A rs886053505
NM_000546.6(TP53):c.*747C>T rs886053504
NM_000546.6(TP53):c.*754C>T rs199729221
NM_000546.6(TP53):c.*761T>C rs925506797
NM_000546.6(TP53):c.*772del rs200757381
NM_000546.6(TP53):c.*779del rs886053503
NM_000546.6(TP53):c.*790G>A rs886053502
NM_000546.6(TP53):c.*806C>A rs886053501
NM_000546.6(TP53):c.*977G>C rs886053500
NM_000546.6(TP53):c.*99G>A rs886053513
NM_000546.6(TP53):c.-102C>G rs886053516
NM_000546.6(TP53):c.-123C>T rs2074027750
NM_000546.6(TP53):c.-73C>A rs886053514
NM_000546.6(TP53):c.1093C>T (p.His365Tyr) rs267605075
NM_000546.6(TP53):c.145G>C (p.Asp49His) rs587780728
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.6(TP53):c.63C>T (p.Asp21=) rs1800369
NM_000546.6(TP53):c.993+8G>A rs1060504163

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