ClinVar Miner

Variants in gene SCN8A with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 26
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815 0.62374
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=) rs35242963 0.01438
NM_001330260.2(SCN8A):c.4779C>T (p.Val1593=) rs12301486 0.01369
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073 0.01112
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=) rs115623439 0.00531
NM_001330260.2(SCN8A):c.928+9C>T rs148027656 0.00397
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=) rs372582842 0.00185
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463 0.00132
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317 0.00061
NM_001330260.2(SCN8A):c.2371-6A>G rs187002252 0.00061
NM_001330260.2(SCN8A):c.1470A>G (p.Glu490=) rs187115247 0.00051
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=) rs144424662 0.00049
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=) rs374452942 0.00035
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=) rs200728478 0.00032
NM_001330260.2(SCN8A):c.5577C>T (p.Ser1859=) rs185667241 0.00026
NM_001330260.2(SCN8A):c.3820-7T>C rs375785915 0.00022
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=) rs368449473 0.00022
NM_001330260.2(SCN8A):c.-67C>T rs374729451 0.00006
NM_001330260.2(SCN8A):c.1215G>A (p.Leu405=) rs751093826 0.00004
NM_001330260.2(SCN8A):c.810G>A (p.Leu270=) rs377606066 0.00002
NM_001330260.2(SCN8A):c.4218T>C (p.Leu1406=) rs768214178 0.00001
NM_001330260.2(SCN8A):c.5391C>T (p.Pro1797=) rs372155701 0.00001
NM_001330260.2(SCN8A):c.2685A>G (p.Gln895=) rs528126331
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=) rs555793953

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