List of variants in gene EGLN1 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_022051.3(EGLN1):c.471G>C (p.Gln157His)	rs61750991	0.01830
NM_022051.3(EGLN1):c.1113C>T (p.Arg371=)	rs143991968	0.00206
NM_022051.3(EGLN1):c.470A>G (p.Gln157Arg)	rs748272071	0.00041
NM_022051.3(EGLN1):c.120C>T (p.Phe40=)	rs555121182	0.00029
NM_022051.3(EGLN1):c.359C>T (p.Pro120Leu)	rs796280222	0.00026
NM_022051.3(EGLN1):c.924G>A (p.Thr308=)	rs201523464	0.00019
NM_022051.3(EGLN1):c.558G>C (p.Lys186Asn)	rs201365992	0.00018
NM_022051.3(EGLN1):c.354C>T (p.Ala118=)	rs1370030808	0.00016
NM_022051.3(EGLN1):c.939T>C (p.His313=)	rs777082260	0.00006
NM_022051.3(EGLN1):c.168C>T (p.Leu56=)	rs750205790	0.00005
NM_022051.3(EGLN1):c.24C>T (p.Pro8=)	rs766080154	0.00002
NM_022051.3(EGLN1):c.321G>A (p.Ala107=)	rs938944314	0.00002
NM_022051.3(EGLN1):c.1227T>C (p.Gly409=)
NM_022051.3(EGLN1):c.147G>A (p.Gln49=)
NM_022051.3(EGLN1):c.360A>C (p.Pro120=)
NM_022051.3(EGLN1):c.492C>G (p.Pro164=)

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