ClinVar Miner

List of variants reported as benign for Familial erythrocytosis

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Total variants: 34
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HGVS dbSNP
NM_000121.4(EPOR):c.1138C>G (p.Pro380Ala) rs35423344
NM_001430.5(EPAS1):c.*1276G>A rs1868091
NM_001430.5(EPAS1):c.*539_*540del rs75932330
NM_001430.5(EPAS1):c.*703_*706dup rs139377540
NM_001430.5(EPAS1):c.*853G>A rs10495933
NM_001430.5(EPAS1):c.-341dup rs149642079
NM_001430.5(EPAS1):c.-471C>T rs17039192
NM_001430.5(EPAS1):c.-58dup rs200720368
NM_001430.5(EPAS1):c.1035-7C>G rs7557402
NM_001430.5(EPAS1):c.218-11C>T rs75591953
NM_001430.5(EPAS1):c.218-9C>T rs75984373
NM_001430.5(EPAS1):c.218-9_218-8insT rs35508970
NM_001430.5(EPAS1):c.2296A>C (p.Thr766Pro) rs59901247
NM_001430.5(EPAS1):c.2353C>A (p.Pro785Thr) rs61518065
NM_001430.5(EPAS1):c.2511C>T (p.Pro837=) rs35795449
NM_001430.5(EPAS1):c.780-15T>A rs17035079
NM_022051.2(EGLN1):c.*1880A>T rs13239
NM_022051.2(EGLN1):c.*1919T>C rs41303095
NM_022051.2(EGLN1):c.*2061C>G rs116262857
NM_022051.2(EGLN1):c.*648del rs149920332
NM_022051.2(EGLN1):c.*989T>C rs7550833
NM_022051.2(EGLN1):c.-1592T>C rs12406290
NM_022051.2(EGLN1):c.-1706T>C rs7544596
NM_022051.2(EGLN1):c.-2448A>C rs114449367
NM_022051.2(EGLN1):c.-2586T>C rs2153364
NM_022051.2(EGLN1):c.-2592T>G rs1361383
NM_022051.2(EGLN1):c.-2599T>C rs1361384
NM_022051.2(EGLN1):c.-2923C>T rs1339894
NM_022051.2(EGLN1):c.-3142dup rs111995599
NM_022051.2(EGLN1):c.-531A>G rs113172460
NM_022051.2(EGLN1):c.-536C>T rs184124593
NM_022051.2(EGLN1):c.-698G>A rs80010432
NM_022051.2(EGLN1):c.1217-10del rs371155853
NM_022051.2(EGLN1):c.380G>C (p.Cys127Ser) rs12097901

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