ClinVar Miner

List of variants reported for Lymphoblastic leukemia, acute, with lymphomatous features by Database of Curated Mutations (DoCM)

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr) rs3212723 0.02676
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_001351169.2(NT5C2):c.1075A>C (p.Lys359Gln) rs1057519867
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_004972.4(JAK2):c.2047A>G (p.Arg683Gly) rs1057519721
NM_004972.4(JAK2):c.2048G>C (p.Arg683Thr) rs1057519722
NM_004972.4(JAK2):c.2049A>C (p.Arg683Ser) rs1057519723
NM_004972.4(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_022148.4(CRLF2):c.695T>G (p.Phe232Cys) rs1057519743
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.3(FGFR1):c.1968G>C (p.Lys656Asn) rs1057519897

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