ClinVar Miner

List of variants in gene RUNX1 reported as likely pathogenic for not provided

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Total variants: 16
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HGVS dbSNP
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.1408_1409GC[4] (p.Leu472fs) rs1555884790
NM_001754.4(RUNX1):c.159del (p.Ser53fs) rs1569084646
NM_001754.4(RUNX1):c.171_223del (p.Leu58fs) rs1569084451
NM_001754.4(RUNX1):c.240_241del (p.Glu80fs) rs1569084388
NM_001754.4(RUNX1):c.339del (p.Ile114fs) rs1569084032
NM_001754.4(RUNX1):c.351+1G>C rs1060502579
NM_001754.4(RUNX1):c.424dup (p.Ala142fs) rs1569079076
NM_001754.4(RUNX1):c.501del (p.Ser167fs) rs1569078799
NM_001754.4(RUNX1):c.504_508dup (p.Gly170fs) rs1569078774
NM_001754.4(RUNX1):c.719del (p.Pro240fs) rs1569037127
NM_001754.4(RUNX1):c.820del (p.Gln274fs) rs1569009004

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