ClinVar Miner

List of variants studied for obsolete Li-Fraumeni syndrome 1 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000546.6(TP53):c.848G>A (p.Arg283His) rs371409680 0.00001
NM_000546.6(TP53):c.1129A>C (p.Thr377Pro) rs774269719
NM_000546.6(TP53):c.1176_1177insAGAA (p.Asp393fs)
NM_000546.6(TP53):c.159G>A (p.Trp53Ter) rs1064794618
NM_000546.6(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.6(TP53):c.636del (p.Arg213fs) rs864309495
NM_000546.6(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.835G>A (p.Gly279Arg) rs1555525248
NM_000546.6(TP53):c.891C>G (p.His297Gln) rs750578863

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