ClinVar Miner

List of variants studied for Familial erythrocytosis by Illumina Laboratory Services, Illumina

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001430.5(EPAS1):c.218-9_218-8insT rs35508970 0.17782
NM_001430.5(EPAS1):c.*1040_*1041insG rs111426869 0.00804
NM_001430.5(EPAS1):c.218-8_218-7dup rs1553394876 0.00358
NM_022051.3(EGLN1):c.*1236_*1237insTG rs564384828 0.00264
NM_000121.3(EPOR):c.-133T>G rs147119630 0.00188
NM_001430.5(EPAS1):c.218-14_218-13insG rs781736017 0.00118
NM_022051.3(EGLN1):c.*1965A>G rs185322052 0.00035
NM_022051.2(EGLN1):c.-1296T>G rs568496391 0.00030
NM_001430.5(EPAS1):c.*1746G>A rs540911183 0.00007
NM_000121.4(EPOR):c.*186_*187dup rs528356712
NM_001430.5(EPAS1):c.*1247dup rs546029479
NM_001430.5(EPAS1):c.*539_*540del rs75932330
NM_001430.5(EPAS1):c.*540del rs75932330
NM_001430.5(EPAS1):c.*680dup rs886056094
NM_001430.5(EPAS1):c.*703_*706dup rs139377540
NM_001430.5(EPAS1):c.*715AG[1] rs886056096
NM_001430.5(EPAS1):c.*733C>G rs886056097
NM_001430.5(EPAS1):c.*814dup rs200260946
NM_001430.5(EPAS1):c.-341dup rs149642079
NM_001430.5(EPAS1):c.-472G>A rs886056075
NM_001430.5(EPAS1):c.-58dup rs200720368
NM_001430.5(EPAS1):c.1035-6del rs757409274
NM_001430.5(EPAS1):c.2045+8dup rs557111154
NM_001430.5(EPAS1):c.218-10_218-9insTC rs1553394835
NM_001430.5(EPAS1):c.218-11_218-10insG rs142684263
NM_022051.2(EGLN1):c.-1634_-1633AG[1] rs145140638
NM_022051.2(EGLN1):c.-1662_-1661delAC rs886046126
NM_022051.2(EGLN1):c.-2692_-2689delACTC rs577920148
NM_022051.2(EGLN1):c.-3146dup rs111995599
NM_022051.3(EGLN1):c.*1410ATTTT[1] rs886046099
NM_022051.3(EGLN1):c.*1428_*1429del rs886046098
NM_022051.3(EGLN1):c.*1434_*1436del rs201012894
NM_022051.3(EGLN1):c.*1802_*1803dup rs541569859
NM_022051.3(EGLN1):c.*2416_*2419del rs574848765
NM_022051.3(EGLN1):c.*261_*263del rs886046108
NM_022051.3(EGLN1):c.*555_*559del rs886046105
NM_022051.3(EGLN1):c.*648del rs149920332
NM_022051.3(EGLN1):c.*758GTTTT[2] rs576306593
NM_022051.3(EGLN1):c.1217-10del rs371155853
NM_022051.3(EGLN1):c.1217-10dup rs371155853

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