ClinVar Miner

List of variants reported for Syndromic Infantile Encephalopathy by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 0.00023
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter) rs376699648 0.00003
NM_001163435.3(TBCK):c.1532G>A (p.Arg511His) rs869320711

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