ClinVar Miner

List of variants studied for acute megakaryoblastic leukemia

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 39
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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
NC_012920.1:m.14372C>A rs1556424431
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_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000546.6(TP53):c.636del (p.Arg213fs) rs864309495
NM_001099.5(ACP3):c.849CAT[1] (p.Ile284del) rs864309497
NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg) rs751713049
NM_001346413.3(PCF11):c.3618del (p.Phe1206fs) rs864309498
NM_002049.4(GATA1):c.115_116insGGGGCTTGGATGCAGCAGCTTCCTGCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCCTG (p.Glu39delinsGlyGlyLeuAspAlaAlaAlaSerCysThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaTer) rs2062673859
NM_002049.4(GATA1):c.142_149dup (p.Ser51fs) rs2062673949
NM_002049.4(GATA1):c.154_173dup (p.Ala59fs) rs398124628
NM_002049.4(GATA1):c.159_171dup (p.Ala58fs) rs2062674122
NM_002049.4(GATA1):c.175_193dup (p.Asp65fs) rs2062674253
NM_002049.4(GATA1):c.219A>G (p.Pro73=) rs2062674480
NM_002049.4(GATA1):c.89C>G (p.Ser30Ter) rs1557020021
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_003048.6(SLC9A2):c.2173del (p.Gln725fs) rs864309496
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
NM_022904.3(RASAL3):c.-5C>G rs76267899
NM_024535.5(CORO7):c.2772+50C>T rs1555468179
NM_153487.4(MDGA1):c.2674T>G (p.Phe892Val) rs864309493
inv(16)(p13.3q24.3)
t(11;12)(p15;p13)
t(11;17)(q23;q12-q21)
t(11;17)(q23;q25)
t(16;16)(p13.3;q24.3)

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