ClinVar Miner

Variants in gene SCN3A with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_006922.4(SCN3A):c.44G>A (p.Arg15His) rs139769668 0.00064
NM_006922.4(SCN3A):c.1381-4A>G rs199597878 0.00053
NM_006922.4(SCN3A):c.642G>A (p.Ala214=) rs575814709 0.00048
NM_006922.4(SCN3A):c.363T>C (p.Ala121=) rs145171998 0.00019
NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu) rs199975643 0.00016
NM_006922.4(SCN3A):c.4899T>A (p.Arg1633=) rs748935500 0.00005
NM_006922.4(SCN3A):c.3844-19dup rs71028466

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