ClinVar Miner

List of variants in gene EGLN1 reported as benign for Familial erythrocytosis

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)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_022051.2(EGLN1):c.-3146dup	rs111995599
NM_022051.3(EGLN1):c.*648del	rs149920332
NM_022051.3(EGLN1):c.1217-10del	rs371155853

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