ClinVar Miner

List of variants reported as likely pathogenic for obsolete Li-Fraumeni syndrome 1 by Counsyl

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.38dup (p.Leu14fs) rs1555527002
NM_000546.6(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.6(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_000546.6(TP53):c.794T>C (p.Leu265Pro) rs879253942
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576

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