ClinVar Miner

List of variants in gene WWOX reported as pathogenic for Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12

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Total variants: 17
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HGVS dbSNP
NC_000016.10:g.(?_78099759)_(78099909_?)del
NC_000016.10:g.(?_78099759)_(78115174_?)del
NC_000016.10:g.(?_78099759)_(78432772_?)del
NC_000016.10:g.(?_78164163)_(78164309_?)del
NC_000016.10:g.(?_78278583)_(78386968_?)del
NC_000016.10:g.(?_78386840)_(78386968_?)del
NC_000016.10:g.(?_78424850)_(78432772_?)del
NC_000016.10:g.(?_78432468)_(78432772_?)del
NM_016373.4(WWOX):c.160C>T (p.Arg54Ter) rs587777248
NM_016373.4(WWOX):c.214C>T (p.Gln72Ter) rs201008667
NM_016373.4(WWOX):c.255C>G (p.Tyr85Ter) rs990150249
NM_016373.4(WWOX):c.583G>T (p.Glu195Ter) rs1567542020
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_016373.4(WWOX):c.779C>G (p.Ser260Ter) rs878855021
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter) rs756762196
NM_016373.4(WWOX):c.854dup (p.Asn285fs)
Single allele

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