List of variants in gene EGLN1 reported as benign by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_022051.3(EGLN1):c.1217-24A>T	rs1435167	0.56992
NM_022051.3(EGLN1):c.1012-113C>T	rs2256908	0.54279
NM_022051.3(EGLN1):c.380G>C (p.Cys127Ser)	rs12097901	0.15191
NM_022051.3(EGLN1):c.471G>C (p.Gln157His)	rs61750991	0.01830
NM_022051.3(EGLN1):c.12C>G (p.Asp4Glu)	rs186996510	0.00079
NM_022051.3(EGLN1):c.359C>T (p.Pro120Leu)	rs796280222	0.00026
NM_022051.3(EGLN1):c.280A>G (p.Arg94Gly)	rs539743848	0.00004
NM_022051.3(EGLN1):c.1217-89A>G	rs1435166

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