ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as likely pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 4
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NM_006920.6(SCN1A):c.3613G>A (p.Glu1205Lys) rs398123590
NM_006920.6(SCN1A):c.4874G>A (p.Arg1625Gln) rs121917995
NM_006920.6(SCN1A):c.5108T>C (p.Met1703Thr) rs121917949
NM_006920.6(SCN1A):c.5356G>C (p.Ala1786Pro) rs794727413

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