ClinVar Miner

List of variants reported for Epileptic encephalopathy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300 0.00002
NM_001099922.3(ALG13):c.411G>C (p.Lys137Asn) rs1057518808
NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter) rs759766243
NM_016373.4(WWOX):c.918del (p.Glu306fs) rs1057518795
NM_016729.3(FOLR1):c.287G>A (p.Cys96Tyr) rs1057518816

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