ClinVar Miner

List of variants reported as uncertain significance for Familial erythrocytosis by Illumina Clinical Services Laboratory,Illumina

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Total variants: 17
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NM_000121.4(EPOR):c.*186_*187dup rs528356712
NM_001430.5(EPAS1):c.*540del rs75932330
NM_001430.5(EPAS1):c.*680dup rs886056094
NM_001430.5(EPAS1):c.*715_*716AG[1] rs886056096
NM_001430.5(EPAS1):c.*733C>G rs886056097
NM_001430.5(EPAS1):c.-472G>A rs886056075
NM_001430.5(EPAS1):c.1035-6del rs757409274
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.*1415_*1419delATTTT rs886046099
NM_022051.2(EGLN1):c.*1428_*1429del rs886046098
NM_022051.2(EGLN1):c.*1802_*1803dup rs541569859
NM_022051.2(EGLN1):c.*1965A>G rs185322052
NM_022051.2(EGLN1):c.*261_*263del rs886046108
NM_022051.2(EGLN1):c.*555_*559del rs886046105
NM_022051.2(EGLN1):c.-1661_-1660del rs886046126
NM_022051.2(EGLN1):c.1217-23dup rs371155853

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