ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP
NC_000016.10:g.(?_78386840)_(78432772_?)del
NC_000016.10:g.(?_78424850)_(78425075_?)del
NC_000016.10:g.(?_78424850)_(78432772_?)dup
NM_016373.3(WWOX):c.409+1G>C rs1060502727

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