ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by Department Of Pathology & Laboratory Medicine, University Of Pennsylvania

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_004333.6(BRAF):c.1574T>G (p.Leu525Arg) rs869025340
NM_007194.4(CHEK2):c.1095+2T>G rs1569115687

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