ClinVar Miner

Variants in gene combination LOC102724058, SCN1A 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: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308 0.00074
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638 0.00038
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122 0.00019
NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val) rs762317674 0.00016
NM_001165963.4(SCN1A):c.3591A>G (p.Glu1197=) rs371596040 0.00014
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=) rs149315236 0.00014
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405 0.00011
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973 0.00008
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=) rs587780445 0.00008
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458 0.00006
NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=) rs369688121 0.00006
NM_001165963.4(SCN1A):c.4570C>A (p.Pro1524Thr) rs143088184 0.00006
NM_001165963.4(SCN1A):c.3585T>C (p.Asn1195=) rs138181528 0.00004
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457 0.00004
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715 0.00003
NM_001165963.4(SCN1A):c.3220G>A (p.Asp1074Asn) rs751514645 0.00002
NM_001165963.4(SCN1A):c.4284+7G>A rs745918943 0.00002
NM_001165963.4(SCN1A):c.3120G>T (p.Arg1040Ser) rs1373733895 0.00001
NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val) rs779306054 0.00001
NM_001165963.4(SCN1A):c.4524T>C (p.Tyr1508=) rs778620898 0.00001
NM_001165963.4(SCN1A):c.5532A>G (p.Pro1844=) rs886043063 0.00001
NM_001165963.4(SCN1A):c.5963G>A (p.Arg1988Gln) rs769477807 0.00001
NM_001165963.4(SCN1A):c.5977A>G (p.Ile1993Val) rs751750112 0.00001
NM_001165963.4(SCN1A):c.3705+10del rs570862962
NM_001165963.4(SCN1A):c.4002+2420G>A
NM_001165963.4(SCN1A):c.4339-5G>A rs1057522587
NM_001165963.4(SCN1A):c.5008T>C (p.Leu1670=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.