ClinVar Miner

List of variants reported as pathogenic for acute megakaryoblastic leukemia

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000546.6(TP53):c.636del (p.Arg213fs) rs864309495
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

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