List of variants in gene RUNX1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser)	rs111527738	0.01206
NM_001754.5(RUNX1):c.144C>T (p.Ser48=)	rs147889692	0.00344
NM_001754.5(RUNX1):c.648C>T (p.Pro216=)	rs199759556	0.00021
NM_001754.5(RUNX1):c.668A>G (p.Glu223Gly)	rs780999703	0.00009
NM_001754.5(RUNX1):c.1041G>A (p.Met347Ile)	rs370114565	0.00001
NM_001754.5(RUNX1):c.225C>T (p.Asp75=)	rs747801893	0.00001
NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln)	rs1569061762	0.00001
GRCh37/hg19 21q22.12(chr21:36164432-36421257)x1
NM_001754.5(RUNX1):c.*4140C>T	rs141693054
NM_001754.5(RUNX1):c.1216del (p.Tyr406fs)	rs2056453972
NM_001754.5(RUNX1):c.1345C>T (p.Gln449Ter)
NM_001754.5(RUNX1):c.414A>C (p.Glu138Asp)	rs771823558
NM_001754.5(RUNX1):c.805+12710T>A
NM_001754.5(RUNX1):c.968-10C>A	rs1476636108

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