ClinVar Miner

List of variants in gene EIF2B5 reported by Athena Diagnostics Inc

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_003907.3(EIF2B5):c.1759A>G (p.Ile587Val) rs843358 0.32719
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) rs113994049 0.00027
NM_003907.3(EIF2B5):c.37G>A (p.Val13Ile) rs577738220 0.00006
NM_003907.3(EIF2B5):c.386G>A (p.Arg129Gln)

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