ClinVar Miner

List of variants in gene EGLN1 reported as uncertain significance for Familial erythrocytosis

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Total variants: 8
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HGVS dbSNP
NM_022051.2(EGLN1):c.*1415_*1419delATTTT rs886046099
NM_022051.2(EGLN1):c.*1428_*1429del rs886046098
NM_022051.2(EGLN1):c.*1802_*1803dup rs541569859
NM_022051.2(EGLN1):c.*1965A>G rs185322052
NM_022051.2(EGLN1):c.*261_*263del rs886046108
NM_022051.2(EGLN1):c.*555_*559del rs886046105
NM_022051.2(EGLN1):c.-1661_-1660del rs886046126
NM_022051.2(EGLN1):c.1217-23dup rs371155853

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