ClinVar Miner

List of variants reported as likely pathogenic by ClinGen Myeloid Malignancy Variant Curation Expert Panel

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Total variants: 26
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HGVS dbSNP
NC_000021.9:g.(?_34787801)_(34799462_?)del
NC_000021.9:g.(?_35048832)_(35049298_?)del
NM_001754.4(RUNX1):c.1003C>T (p.Gln335Ter) rs1569002881
NM_001754.4(RUNX1):c.1163C>A (p.Ser388Ter) rs1569002296
NM_001754.4(RUNX1):c.1198_1201dup (p.Pro401fs) rs1569002159
NM_001754.4(RUNX1):c.1228_1231dup (p.Ala411fs) rs1569002077
NM_001754.4(RUNX1):c.1263_1264insTCCCTCCTACCACCTGTACTACGGCGCCTCGGCCGGCTCCTACCAGTTCTCCATGGTGGGCGGC (p.Glu422fs) rs1569001972
NM_001754.4(RUNX1):c.159del (p.Ser53fs) rs1569084646
NM_001754.4(RUNX1):c.314A>C (p.His105Pro) rs1569084116
NM_001754.4(RUNX1):c.315C>A (p.His105Gln) rs1601528621
NM_001754.4(RUNX1):c.316T>A (p.Trp106Arg) rs1555899735
NM_001754.4(RUNX1):c.351+1G>C rs1060502579
NM_001754.4(RUNX1):c.424dup (p.Ala142fs) rs1569079076
NM_001754.4(RUNX1):c.467C>A (p.Ala156Glu) rs267607026
NM_001754.4(RUNX1):c.484A>G (p.Arg162Gly) rs1057519751
NM_001754.4(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_001754.4(RUNX1):c.486G>C (p.Arg162Ser) rs1057519749
NM_001754.4(RUNX1):c.486G>T (p.Arg162Ser) rs1057519749
NM_001754.4(RUNX1):c.504_508dup (p.Gly170fs) rs1569078774
NM_001754.4(RUNX1):c.508+2T>C rs1601515707
NM_001754.4(RUNX1):c.509-?_613+?del
NM_001754.4(RUNX1):c.593A>T (p.Asp198Val) rs1569061786
NM_001754.4(RUNX1):c.820del (p.Gln274fs) rs1569009004
NM_001754.5(RUNX1):c.506G>T (p.Arg169Ile)
NM_001754.5(RUNX1):c.596G>A (p.Gly199Glu)
NM_001754.5(RUNX1):c.968-10C>A

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