ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_022051.3(EGLN1):c.*1236_*1237insTG rs564384828 0.00264
NM_022051.2(EGLN1):c.-1296T>G rs568496391 0.00030
NM_022051.2(EGLN1):c.-1634_-1633AG[1] rs145140638
NM_022051.2(EGLN1):c.-2692_-2689delACTC rs577920148
NM_022051.3(EGLN1):c.*1434_*1436del rs201012894
NM_022051.3(EGLN1):c.*2416_*2419del rs574848765
NM_022051.3(EGLN1):c.*758GTTTT[2] rs576306593

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