ClinVar Miner

List of variants in gene combination EIF2B4, GTF3C2 reported as likely benign for leukoencephalopathy with vanishing white matter 1

Included ClinVar conditions (4):
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_001034116.2(EIF2B4):c.1392A>G (p.Gln464=) rs148810263 0.00399
NM_001034116.2(EIF2B4):c.791C>A (p.Thr264Asn) rs143926434
NM_001034116.2(EIF2B4):c.938T>C (p.Val313Ala) rs560532019

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