ClinVar Miner

List of variants reported as likely pathogenic for Li-Fraumeni syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.1028del (p.Glu343fs) rs2150994907
NM_000546.6(TP53):c.324_331delinsAAA (p.Phe109fs) rs2073455679
NM_000546.6(TP53):c.464C>A (p.Thr155Asn) rs786202752
NM_000546.6(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.6(TP53):c.749C>T (p.Pro250Leu) rs1064794311
NM_000546.6(TP53):c.782+1G>T rs1555525429
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.891_915dup (p.Ala307_Leu308insAlaProArgGluHisTer) rs2073171970
NM_007194.4(CHEK2):c.1259+1G>A rs121908707

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