ClinVar Miner

List of variants reported as pathogenic for aggressive B-cell non-Hodgkin lymphoma

Included ClinVar conditions (5):
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Minimum conflict level:
ClinVar version:
Total variants: 25
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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_000051.4(ATM):c.4081C>T (p.Gln1361Ter) rs121434222
NM_000051.4(ATM):c.7251_7253dup (p.Lys2418_Arg2419insLys) rs796051857
NM_000051.4(ATM):c.7268A>G (p.Glu2423Gly) rs121434221
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000061.3(BTK):c.1442G>C (p.Cys481Ser) rs1057519825
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_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.776A>C (p.Asp259Ala)
NM_002015.4(FOXO1):c.482G>A (p.Gly161Asp)
NM_002467.6(MYC):c.162G>C (p.Glu54Asp) rs121918684
NM_002467.6(MYC):c.214C>T (p.Pro72Ser) rs28933407
NM_002467.6(MYC):c.220C>G (p.Pro74Ala) rs121918685
NM_002467.6(MYC):c.302A>C (p.Asn101Thr) rs121918683
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_005236.3(ERCC4):c.1484_1488del (p.Thr495fs) rs397509400
NM_005877.6(SF3A1):c.1641del (p.Ser548fs)
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys) rs147828672
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)

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