ClinVar Miner

List of variants in gene EGLN1 studied for Familial erythrocytosis

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Total variants: 18
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HGVS dbSNP
NM_022051.2(EGLN1):c.*1236_*1237insTG rs564384828
NM_022051.2(EGLN1):c.*1415_*1419delATTTT rs886046099
NM_022051.2(EGLN1):c.*1428_*1429del rs886046098
NM_022051.2(EGLN1):c.*1434_*1436del rs201012894
NM_022051.2(EGLN1):c.*1802_*1803dup rs541569859
NM_022051.2(EGLN1):c.*1965A>G rs185322052
NM_022051.2(EGLN1):c.*2416_*2419del rs574848765
NM_022051.2(EGLN1):c.*261_*263del rs886046108
NM_022051.2(EGLN1):c.*555_*559del rs886046105
NM_022051.2(EGLN1):c.*648del rs149920332
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.-1661_-1660del rs886046126
NM_022051.2(EGLN1):c.-2689_-2686del rs577920148
NM_022051.2(EGLN1):c.-3142dup rs111995599
NM_022051.2(EGLN1):c.1217-10del rs371155853
NM_022051.2(EGLN1):c.1217-23dup rs371155853

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