ClinVar Miner

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

Minimum review status of the submission from ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen: Collection method of the submission from ClinGen Platelet Disorders 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: 6
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HGVS dbSNP
NM_000212.2(ITGB3):c.433G>A (p.Asp145Asn) rs121918445
NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His) rs137852908
NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp) rs1598380253
NM_000419.5(ITGA2B):c.1878G>C (p.Gln626His) rs80277041
NM_000419.5(ITGA2B):c.2602-3C>G rs763330792
NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu) rs80002943

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