ClinVar Miner

List of variants reported as likely pathogenic for acute megakaryoblastic leukemia

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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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_000215.4(JAK3):c.1503G>T (p.Gln501His) rs201283129 0.00002
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter) rs121917830
NM_000215.4(JAK3):c.1503G>C (p.Gln501His) rs201283129
NM_000215.4(JAK3):c.1715C>T (p.Ala572Val) rs121913504
NM_000215.4(JAK3):c.1970G>A (p.Arg657Gln) rs758959409
NM_000215.4(JAK3):c.260T>C (p.Ile87Thr) rs1057519770
NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg) rs751713049
NM_002227.4(JAK1):c.2347C>T (p.Leu783Phe) rs1655079234
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_006265.3(RAD21):c.9C>A (p.Tyr3Ter) rs758626942
NM_006565.4(CTCF):c.1502_1503dup (p.Tyr502fs) rs2052291685
NM_006565.4(CTCF):c.1640_1650delinsT (p.Asp547fs) rs2052320698
NM_014159.7(SETD2):c.1321C>T (p.Arg441Ter) rs1293916143
NM_014159.7(SETD2):c.3918G>A (p.Trp1306Ter) rs2043042281
NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs) rs1909527513

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