ClinVar Miner

List of variants in gene RUNX1 reported as likely pathogenic by Invitae

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NC_000021.8:g.(?_36206697)_(36206908_?)del
NM_001754.4(RUNX1):c.509-?_613+?del
NM_001754.5(RUNX1):c.1210del (p.His404fs)
NM_001754.5(RUNX1):c.1242C>G (p.Tyr414Ter) rs2056452818
NM_001754.5(RUNX1):c.508+1G>A rs1601515718
NM_001754.5(RUNX1):c.508+2T>C rs1601515707
NM_001754.5(RUNX1):c.508_508+10del
NM_001754.5(RUNX1):c.596G>A (p.Gly199Glu) rs2057541040
NM_001754.5(RUNX1):c.613+1G>A
NM_001754.5(RUNX1):c.805+1G>T rs2146074371
NM_001754.5(RUNX1):c.806-1G>A
NM_001754.5(RUNX1):c.813del (p.Arg271fs) rs2145910106
NM_001754.5(RUNX1):c.844_856del (p.Asp282fs) rs2056577059

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