ClinVar Miner

Variants in gene SCN3A with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_006922.4(SCN3A):c.5670T>C (p.Pro1890=) rs73969174 0.00763
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288 0.00518
NM_006922.4(SCN3A):c.5952C>T (p.Asp1984=) rs145197227 0.00156
NM_006922.4(SCN3A):c.1380+12T>C rs146105464 0.00125
NM_006922.4(SCN3A):c.2304T>C (p.Ile768=) rs72870766 0.00072
NM_006922.4(SCN3A):c.44G>A (p.Arg15His) rs139769668 0.00064
NM_006922.4(SCN3A):c.5658C>T (p.Val1886=) rs141161490 0.00063
NM_006922.4(SCN3A):c.1381-4A>G rs199597878 0.00053
NM_006922.4(SCN3A):c.363T>C (p.Ala121=) rs145171998 0.00019
NM_006922.4(SCN3A):c.2181G>A (p.Pro727=) rs138350988 0.00015
NM_006922.4(SCN3A):c.207T>A (p.Pro69=) rs754282083 0.00013
NM_006922.4(SCN3A):c.4899T>A (p.Arg1633=) rs748935500 0.00005
NM_006922.4(SCN3A):c.1617C>T (p.Phe539=)

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