ClinVar Miner

List of variants in gene combination EPAS1, LOC129933655 reported as benign for bone marrow disorder

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001430.5(EPAS1):c.-140G>A rs147597862 0.00873
NM_001430.5(EPAS1):c.26+7G>C rs764477794 0.00004
NM_001430.5(EPAS1):c.-58dup rs200720368

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