ClinVar Miner

List of variants in gene EGLN1 reported as pathogenic by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_022051.3(EGLN1):c.1112G>A (p.Arg371His) rs119476044
NM_022051.3(EGLN1):c.1121A>G (p.His374Arg) rs119476045
NM_022051.3(EGLN1):c.950C>G (p.Pro317Arg) rs80358193

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