ClinVar Miner

Variants in gene combination LOC102724058, SCN1A with conflicting interpretations reported as "pathogenic and "uncertain significance"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=) rs796052994
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466

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