ClinVar Miner

List of variants in gene RUNX1 reported as likely pathogenic

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Total variants: 40
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HGVS dbSNP
NC_000021.9:g.(?_34787801)_(34799462_?)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.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.259G>T (p.Gly87Cys) rs561166961
NM_001754.4(RUNX1):c.314A>C (p.His105Pro) rs1569084116
NM_001754.4(RUNX1):c.315C>A (p.His105Gln)
NM_001754.4(RUNX1):c.316T>A (p.Trp106Arg) rs1555899735
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.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.497G>A (p.Arg166Gln) rs1060499616
NM_001754.4(RUNX1):c.501del (p.Ser167fs) rs1569078799
NM_001754.4(RUNX1):c.502G>T (p.Gly168Ter)
NM_001754.4(RUNX1):c.504_508dup (p.Gly170fs) rs1569078774
NM_001754.4(RUNX1):c.508+2T>C
NM_001754.4(RUNX1):c.509-?_613+?del
NM_001754.4(RUNX1):c.557T>A (p.Val186Asp) rs797045927
NM_001754.4(RUNX1):c.578T>A (p.Ile193Asn)
NM_001754.4(RUNX1):c.593A>T (p.Asp198Val)
NM_001754.4(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001754.4(RUNX1):c.622C>T (p.Gln208Ter)
NM_001754.4(RUNX1):c.679G>T (p.Glu227Ter) rs1555889984
NM_001754.4(RUNX1):c.719del (p.Pro240fs) rs1569037127
NM_001754.4(RUNX1):c.784C>T (p.Gln262Ter)
NM_001754.4(RUNX1):c.820del (p.Gln274fs) rs1569009004
NM_001754.4(RUNX1):c.861C>G (p.Tyr287Ter)
NM_001754.4(RUNX1):c.958C>T (p.Arg320Ter) rs1569008655
Single allele

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