ClinVar Miner

List of variants in gene combination EIF2AK3, LOC101928371 reported as benign for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004836.7(EIF2AK3):c.2110G>T (p.Ala704Ser) rs1805165 0.76783
NM_004836.6(EIF2AK3):c.*1007C>G rs33957402 0.29006
NM_004836.7(EIF2AK3):c.3291A>G (p.Ser1097=) rs10208681 0.00543
NM_004836.7(EIF2AK3):c.2532T>C (p.Ser844=) rs56094918 0.00039

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