ClinVar Miner

List of variants reported as likely benign for polycythemia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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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_001430.5(EPAS1):c.*1040_*1041insG rs111426869 0.00804
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) rs142094773 0.00541
NM_001430.5(EPAS1):c.1121T>A (p.Phe374Tyr) rs150797491 0.00455
NM_001430.5(EPAS1):c.218-8_218-7dup rs1553394876 0.00358
NM_022051.3(EGLN1):c.*387G>A rs192117490 0.00302
NM_022051.3(EGLN1):c.*1236_*1237insTG rs564384828 0.00264
NM_000121.3(EPOR):c.-133T>G rs147119630 0.00188
NM_022051.3(EGLN1):c.*2043C>T rs193073371 0.00143
NM_001430.5(EPAS1):c.525G>A (p.Thr175=) rs115264325 0.00137
NM_022051.3(EGLN1):c.*21C>G rs199612416 0.00121
NM_001430.5(EPAS1):c.218-14_218-13insG rs781736017 0.00118
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_000121.4(EPOR):c.1428C>T (p.Ala476=) rs141096553 0.00016
NM_001430.5(EPAS1):c.886+12G>A rs369745324 0.00016
NM_001430.5(EPAS1):c.-4G>A rs535202677 0.00014
NM_001430.5(EPAS1):c.*1746G>A rs540911183 0.00007
NM_000121.4(EPOR):c.1456T>C (p.Ser486Pro) rs370841243 0.00006
NM_001430.5(EPAS1):c.1554+7G>A rs376028682 0.00006
NM_000121.4(EPOR):c.1022C>T (p.Thr341Met) rs754708788 0.00004
NM_000121.4(EPOR):c.1444G>A (p.Asp482Asn) rs775164142 0.00004
NM_000121.4(EPOR):c.24C>T (p.Leu8=) rs577368929 0.00004
NM_001430.5(EPAS1):c.238G>A (p.Glu80Lys) rs770783327 0.00004
NM_000121.4(EPOR):c.215T>C (p.Val72Ala) rs780617943 0.00001
NM_001430.5(EPAS1):c.859G>A (p.Glu287Lys) rs777687956 0.00001
NM_001430.5(EPAS1):c.*1247dup rs546029479
NM_001430.5(EPAS1):c.*1373C>A rs112031193
NM_001430.5(EPAS1):c.*814dup rs200260946
NM_001430.5(EPAS1):c.2045+8dup rs557111154
NM_001430.5(EPAS1):c.587C>A (p.Thr196Lys) rs780349023
NM_022051.2(EGLN1):c.-1634_-1633AG[1] rs145140638
NM_022051.2(EGLN1):c.-2689_-2686delCACT 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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