ClinVar Miner

List of variants reported as pathogenic for aggressive B-cell non-Hodgkin lymphoma by Department Of Pathology & Laboratory Medicine, University Of Pennsylvania

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_139276.3(STAT3):c.1919A>T (p.Tyr640Phe) rs769031989 0.00001
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000314.8(PTEN):c.800del (p.Lys267fs) rs121913289
NM_000314.8(PTEN):c.968del (p.Asn323fs) rs121913291
NM_000535.7(PMS2):c.163+2T>G
NM_000546.6(TP53):c.776A>C (p.Asp259Ala)
NM_002485.5(NBN):c.1396del (p.Arg466fs) rs1349928568
NM_003745.2(SOCS1):c.462C>A (p.Tyr154Ter)
NM_004380.3(CREBBP):c.4268del (p.Pro1423fs)
NM_005877.6(SF3A1):c.1641del (p.Ser548fs)
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys) rs147828672

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