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
NM_022051.2(EGLN1):c.*1236_*1237insTG rs564384828
NM_022051.2(EGLN1):c.*1434_*1436del rs201012894
NM_022051.2(EGLN1):c.*2416_*2419del rs574848765
NM_022051.2(EGLN1):c.*768_*772delGTTTT rs576306593
NM_022051.2(EGLN1):c.-1296T>G rs568496391
NM_022051.2(EGLN1):c.-1632_-1631delAG rs145140638
NM_022051.2(EGLN1):c.-2689_-2686del rs577920148

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