ClinVar Miner

List of variants studied for acute lymphoblastic leukemia (disease)

Included ClinVar conditions (9):
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Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) rs3212723
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_002185.5(IL7R):c.553A>T (p.Ser185Cys) rs1057519759
NM_002227.4(JAK1):c.1901C>A (p.Ala634Asp) rs869312953
NM_002227.4(JAK1):c.1937C>T (p.Ser646Phe) rs151047872
NM_002227.4(JAK1):c.1972G>T (p.Val658Phe) rs1057519753
NM_002485.4(NBN):c.1030C>T rs767215758
NM_002485.4(NBN):c.1034G>T (p.Gly345Val) rs587780089
NM_002485.4(NBN):c.119C>T (p.Ser40Leu) rs587781530
NM_002485.4(NBN):c.11T>G (p.Leu4Arg) rs748090667
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.4(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.4(NBN):c.1903A>T (p.Lys635Ter) rs587782545
NM_002485.4(NBN):c.1999T>C (p.Ser667Pro) rs587780091
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_002485.4(NBN):c.2149A>T (p.Thr717Ser) rs587780093
NM_002485.4(NBN):c.2215C>G (p.Leu739Val) rs370058152
NM_002485.4(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.4(NBN):c.361G>C (p.Asp121His) rs777916019
NM_002485.4(NBN):c.390A>G (p.Gln130=) rs146150499
NM_002485.4(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.4(NBN):c.431C>T (p.Thr144Ile) rs1554567906
NM_002485.4(NBN):c.456G>A (p.Met152Ile) rs201816949
NM_002485.4(NBN):c.503G>A (p.Gly168Glu) rs1554566728
NM_002485.4(NBN):c.505C>T (p.Arg169Cys) rs182756889
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.595C>T (p.Pro199Ser) rs587780097
NM_002485.4(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002485.4(NBN):c.683T>G (p.Ile228Arg) rs777460725
NM_002485.4(NBN):c.775G>A (p.Glu259Lys) rs201559159
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_004360.5(CDH1):c.1865A>G (p.Asn622Ser) rs147925149
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_005157.6(ABL1):c.757T>C (p.Tyr253His) rs121913461
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) rs121913459
NM_012229.4(NT5C2):c.1075A>C (p.Lys359Gln) rs1057519867
NM_016734.3(PAX5):c.1013-1G>A rs1554646594
NM_016734.3(PAX5):c.435G>C (p.Gln145His)
NM_016734.3(PAX5):c.547G>A (p.Gly183Ser) rs398123063
NM_022148.4(CRLF2):c.695T>G (p.Phe232Cys) rs1057519743
NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.2(FGFR1):c.1968G>C (p.Lys656Asn) rs1057519897
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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