List of variants studied for Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 by KCCC/NGS Laboratory, Kuwait Cancer Control Center

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001754.5(RUNX1):c.614-34C>T	rs11702841	0.99999
NM_001754.5(RUNX1):c.1389C>G (p.Pro463=)	rs61750222	0.04709
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser)	rs111527738	0.01206
NM_001754.5(RUNX1):c.927C>T (p.Gly309=)	rs59802347	0.01119
NM_001754.5(RUNX1):c.183G>A (p.Pro61=)	rs76558016	0.00454
NM_001754.5(RUNX1):c.351+15A>G	rs199881885	0.00396
NM_001754.5(RUNX1):c.303G>T (p.Val101=)	rs142472642	0.00200
NM_001754.5(RUNX1):c.1086G>C (p.Ser362=)	rs143947839	0.00072
NM_001754.5(RUNX1):c.654C>T (p.Ser218=)	rs145230602	0.00063
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=)	rs544247912	0.00040
NM_001754.5(RUNX1):c.1005G>T (p.Gln335His)	rs80314254	0.00011
NM_001754.5(RUNX1):c.36G>A (p.Ser12=)	rs201490575	0.00004
NM_001754.5(RUNX1):c.984A>G (p.Thr328=)	rs377305704	0.00003
NM_001754.5(RUNX1):c.714C>T (p.Val238=)	rs776056802	0.00001

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