ClinVar Miner

Variants in gene combination LOC110121269, SCN5A with conflicting interpretations reported as "likely benign and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His) rs199473592
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr) rs369704754
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962
NM_000335.5(SCN5A):c.3344G>A (p.Arg1115Gln) rs369678002
NM_001160161.1(SCN5A):c.3228+1526G>A rs199473193
NM_198056.2(SCN5A):c.2956C>T (p.Arg986Trp) rs561547165
NM_198056.2(SCN5A):c.2988C>T (p.Ala996=) rs781529391
NM_198056.2(SCN5A):c.3206C>T (p.Thr1069Met) rs199473187
NM_198056.2(SCN5A):c.3228+6C>G rs368048551
NM_198056.2(SCN5A):c.3292G>T (p.Val1098Leu) rs199473191
NM_198056.2(SCN5A):c.3384C>T (p.Cys1128=) rs561922849

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