ClinVar Miner

List of variants studied for leukoencephalopathy with vanishing white matter 1 by Geisinger Autism and Developmental Medicine Institute, Geisinger Health System

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_003907.3(EIF2B5):c.1265G>A (p.Arg422Gln) rs372497906 0.00011
NM_003907.3(EIF2B5):c.349C>G (p.Leu117Val) rs1365253275 0.00001

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