ClinVar Miner

List of variants reported as pathogenic for acute lymphoblastic leukemia (disease)

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_001987.4(ETV6):c.1046T>C (p.Leu349Pro) rs786205155
NM_001987.4(ETV6):c.1153-5_1153-1delAACAG rs786205154
NM_002074.5(GNB1):c.227A>G (p.Asp76Gly) rs869312821
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) rs752746786
NM_002485.4(NBN):c.1030C>T rs767215758
NM_002485.4(NBN):c.1903A>T (p.Lys635Ter) rs587782545
NM_003921.5(BCL10):c.136dup (p.Ile46fs) rs387906351
NM_004119.2(FLT3):c.1777_1779del (p.Asp593del) rs587776834
NM_004119.2(FLT3):c.2503G>T (p.Asp835Tyr) rs121913488
NM_004119.2(FLT3):c.2504A>T (p.Asp835Val) rs121909646
NM_004972.3(JAK2):c.2047A>G (p.Arg683Gly) rs1057519721
NM_004972.3(JAK2):c.2048G>C (p.Arg683Thr) rs1057519722
NM_004972.3(JAK2):c.2049A>C (p.Arg683Ser) rs1057519723
NM_004972.3(JAK2):c.2049A>T (p.Arg683Ser) rs1057519723
NM_022148.4(CRLF2):c.695T>G (p.Phe232Cys) rs1057519743
NM_138761.4(BAX):c.115_121del (p.Gly39fs) rs398122840
NM_138761.4(BAX):c.199G>A (p.Gly67Arg) rs398122513
NP_001092.1(ACTB):p.Val209Leu
PAX5, PRO80ARG
Single allele

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