ClinVar Miner

List of variants in gene EFL1 studied for anemia (disease)

Included ClinVar conditions (258):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_024580.5(EFL1):c.2645T>A (p.Met882Lys) rs1316615934
NM_024580.6(EFL1):c.1232T>A (p.Ile411Asn)
NM_024580.6(EFL1):c.1971C>G (p.His657Gln)
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln) rs376095522

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