ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys) rs758746181 0.00007
NM_001414.4(EIF2B1):c.252+1G>A rs113994006 0.00006
NM_001414.4(EIF2B1):c.622A>T (p.Asn208Tyr) rs113994007 0.00001
NM_001414.4(EIF2B1):c.328A>G (p.Lys110Glu) rs863225050
NM_001414.4(EIF2B1):c.547G>T (p.Val183Phe) rs863225048
NM_001414.4(EIF2B1):c.610GGA[1] (p.Gly205del) rs863225051
NM_001414.4(EIF2B1):c.715T>G (p.Phe239Val) rs863225052
NM_001414.4(EIF2B1):c.833C>G (p.Pro278Arg) rs863225049

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