ClinVar Miner

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

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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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_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.156_157del (p.Ser53fs) rs767454740
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_005157.6(ABL1):c.757T>C (p.Tyr253His) rs121913461
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) rs121913459
NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.2(FGFR1):c.1968G>C (p.Lys656Asn) rs1057519897

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