ClinVar Miner

List of variants in gene EIF2B1 reported as uncertain significance for leukoencephalopathy with vanishing white matter 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001414.4(EIF2B1):c.*422C>T rs529880752 0.00153
NM_001414.4(EIF2B1):c.14-13T>C rs200969641 0.00116
NM_001414.4(EIF2B1):c.*506C>T rs572343813 0.00068
NM_001414.3(EIF2B1):c.-135G>C rs760509266 0.00067
NM_001414.4(EIF2B1):c.252+13T>C rs200139223 0.00019
NM_001414.4(EIF2B1):c.7G>T (p.Asp3Tyr) rs185814675 0.00008
NM_001414.4(EIF2B1):c.252+1G>A rs113994006 0.00006
NM_001414.4(EIF2B1):c.389A>G (p.Tyr130Cys) rs754044114 0.00006
NM_001414.4(EIF2B1):c.543T>C (p.Ala181=) rs758794919 0.00003
NM_001414.4(EIF2B1):c.*640T>C rs886049049 0.00002
NM_001414.4(EIF2B1):c.482+3A>G rs775140578 0.00002
NM_001414.4(EIF2B1):c.*508A>T rs961054040 0.00001
NM_001414.4(EIF2B1):c.-91C>G rs886049052 0.00001
NM_001414.4(EIF2B1):c.370-10C>T rs768380909 0.00001
NM_001414.4(EIF2B1):c.615A>C (p.Gly205=) rs769409433 0.00001
NM_001414.3(EIF2B1):c.-146A>C rs535812755
NM_001414.3(EIF2B1):c.-150C>T rs886049053
NM_001414.4(EIF2B1):c.*425G>C rs886049050
NM_001414.4(EIF2B1):c.*529G>A rs1955091552
NM_001414.4(EIF2B1):c.-70C>T rs886049051
NM_001414.4(EIF2B1):c.-91C>T rs886049052
NM_001414.4(EIF2B1):c.13G>A (p.Glu5Lys)
NM_001414.4(EIF2B1):c.385G>A (p.Ala129Thr)
NM_001414.4(EIF2B1):c.392C>T (p.Ser131Phe)
NM_001414.4(EIF2B1):c.468G>A (p.Gln156=) rs767525555
NM_001414.4(EIF2B1):c.502C>G (p.Leu168Val)
NM_001414.4(EIF2B1):c.524T>A (p.Val175Asp) rs1955149380
NM_001414.4(EIF2B1):c.627G>C (p.Lys209Asn) rs1955135731
NM_001414.4(EIF2B1):c.671A>G (p.Lys224Arg) rs1195828766
NM_001414.4(EIF2B1):c.752A>G (p.Lys251Arg)

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