ClinVar Miner

List of variants in gene EIF2B3 reported as likely pathogenic by Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_020365.5(EIF2B3):c.89T>C (p.Val30Ala)	rs752636698	0.00001
NM_020365.5(EIF2B3):c.503T>C (p.Leu168Pro)	rs1643855445

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