ClinVar Miner

List of variants studied for leukoencephalopathy with vanishing white matter 1 by Mendelics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) rs113994049 0.00027
NM_003907.3(EIF2B5):c.889G>A (p.Gly297Ser) rs962701773 0.00001
NM_003907.3(EIF2B5):c.1030C>G (p.Arg344Gly) rs1560108537
NM_003907.3(EIF2B5):c.407G>A (p.Arg136His) rs958193703
NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu) rs200143780

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