ClinVar Miner

List of variants studied for Li-Fraumeni syndrome by Illumina Laboratory Services, Illumina

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly) rs2287499 0.32078
NM_001143992.2(WRAP53):c.450C>T (p.Phe150=) rs2287498 0.13667
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282 0.02475
NM_018081.2(WRAP53):c.-245G>C rs17883670 0.01940
NM_000546.6(TP53):c.*569_*570del rs1555523911 0.01175
NM_001126113.2(TP53):c.*1422G>C rs17883782 0.00377
NM_018081.2(WRAP53):c.-206G>A rs17551150 0.00197
NM_001143992.2(WRAP53):c.407C>G (p.Pro136Arg) rs34067256 0.00138
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.*735C>A rs886053505
NM_000546.6(TP53):c.*747C>T rs886053504
NM_000546.6(TP53):c.*772del rs200757381
NM_000546.6(TP53):c.*779del rs886053503
NM_000546.6(TP53):c.*806C>A rs886053501
NM_000546.6(TP53):c.*977G>C rs886053500
NM_000546.6(TP53):c.-73C>A rs886053514
NM_000546.6(TP53):c.63C>T (p.Asp21=) rs1800369

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