ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_001430.5(EPAS1):c.*539_*540del rs75932330
NM_001430.5(EPAS1):c.*703_*706dup rs139377540
NM_001430.5(EPAS1):c.-341dup rs149642079
NM_001430.5(EPAS1):c.-58dup rs200720368
NM_001430.5(EPAS1):c.218-9_218-8insT rs35508970
NM_022051.2(EGLN1):c.*648del rs149920332
NM_022051.2(EGLN1):c.-3142dup rs111995599
NM_022051.2(EGLN1):c.1217-10del rs371155853

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