ClinVar Miner

Variants in gene combination LOC110121269, SCN5A with conflicting interpretations reported as "likely pathogenic and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617 0.00016
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs) rs756159737
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) rs137854609
NM_000335.5(SCN5A):c.3010_3022del (p.Cys1004fs) rs1064792926
NM_000335.5(SCN5A):c.3097C>T (p.Gln1033Ter) rs2125871040
NM_000335.5(SCN5A):c.3244del (p.Ser1082fs) rs1064795784
NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter) rs759924541

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