ClinVar Miner

List of variants in gene combination LOC120977013, SCN2A reported as uncertain significance for electroclinical syndrome

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.-51-1762A>T rs1208312868 0.00035
NM_001040142.2(SCN2A):c.-51-1758A>C rs867379149 0.00001
NM_001040142.2(SCN2A):c.-51-1914C>T rs886054989 0.00001
NM_001040142.2(SCN2A):c.-51-1925G>A rs749326085 0.00001
NM_001040142.2(SCN2A):c.-51-1735del rs67417831
NM_001040142.2(SCN2A):c.-51-1736_-51-1735del rs67417831
NM_001040142.2(SCN2A):c.-51-1736_-51-1735dup rs67417831
NM_001040142.2(SCN2A):c.-51-1737_-51-1735dup rs67417831

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