ClinVar Miner

Variants with conflicting interpretations "pathogenic" from ClinGen TP53 Variant Curation Expert Panel, ClinGen and "likely pathogenic" from any submitter

Minimum review status of the submission from ClinGen TP53 Variant Curation Expert Panel, ClinGen: Collection method of the submission from ClinGen TP53 Variant Curation Expert Panel, ClinGen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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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.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.993+1del rs1131691033

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