ClinVar Miner

List of variants reported as likely benign for Familial erythrocytosis by Illumina Clinical Services Laboratory,Illumina

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Total variants: 15
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HGVS dbSNP
NM_000121.3(EPOR):c.-133T>G rs147119630
NM_001430.5(EPAS1):c.*1040_*1041insG rs111426869
NM_001430.5(EPAS1):c.*1247dup rs546029479
NM_001430.5(EPAS1):c.*1746G>A rs540911183
NM_001430.5(EPAS1):c.*814dup rs200260946
NM_001430.5(EPAS1):c.2045+8dup rs557111154
NM_001430.5(EPAS1):c.218-14_218-13insG rs781736017
NM_001430.5(EPAS1):c.218-8_218-7dup rs1553394876
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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