ClinVar Miner

List of variants in gene EGLN1 reported as likely benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_022051.3(EGLN1):c.*494G>A rs144067360 0.01167
NM_022051.3(EGLN1):c.*1787T>G rs143135847 0.01166
NM_022051.3(EGLN1):c.*387G>A rs192117490 0.00302
NM_022051.3(EGLN1):c.*1236_*1237insTG rs564384828 0.00264
NM_022051.3(EGLN1):c.*2043C>T rs193073371 0.00143
NM_022051.3(EGLN1):c.*21C>G rs199612416 0.00121
NM_022051.3(EGLN1):c.12C>G (p.Asp4Glu) rs186996510 0.00079
NM_022051.2(EGLN1):c.-1296T>G rs568496391 0.00030
NM_022051.3(EGLN1):c.924G>A (p.Thr308=) rs201523464 0.00019
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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