ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as likely benign by Ambry Genetics

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=) rs78041051 0.00175
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001165963.4(SCN1A):c.3804T>C (p.Leu1268=) rs143980709 0.00159
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val) rs138231868 0.00121
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr) rs121918818 0.00084
NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=) rs149579028 0.00073
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512 0.00048
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224 0.00047
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058 0.00040
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.3717T>C (p.Asp1239=) rs376579606 0.00015
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.4557G>A (p.Pro1519=) rs368785509 0.00008
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=) rs587780445 0.00008
NM_001165963.4(SCN1A):c.4317T>C (p.Tyr1439=) rs758014915 0.00007
NM_001165963.4(SCN1A):c.4570C>A (p.Pro1524Thr) rs143088184 0.00006
NM_001165963.4(SCN1A):c.3166A>G (p.Asn1056Asp) rs746016312 0.00005
NM_001165963.4(SCN1A):c.4905C>T (p.Phe1635=) rs774858072 0.00005
NM_001165963.4(SCN1A):c.3726T>C (p.Ile1242=) rs760181074 0.00004
NM_001165963.4(SCN1A):c.4167C>T (p.Asp1389=) rs376118833 0.00004
NM_001165963.4(SCN1A):c.4791T>C (p.His1597=) rs141051370 0.00004
NM_001165963.4(SCN1A):c.3387G>A (p.Thr1129=) rs375953445 0.00003
NM_001165963.4(SCN1A):c.5349G>A (p.Ala1783=) rs369500022 0.00003
NM_001165963.4(SCN1A):c.5489A>C (p.Gln1830Pro) rs566595038 0.00003
NM_001165963.4(SCN1A):c.5655A>C (p.Leu1885=) rs746651472 0.00003
NM_001165963.4(SCN1A):c.3165C>T (p.Asn1055=) rs797045939 0.00002
NM_001165963.4(SCN1A):c.3886T>C (p.Leu1296=) rs375896308 0.00002
NM_001165963.4(SCN1A):c.4923T>C (p.Ala1641=) rs369650500 0.00002
NM_001165963.4(SCN1A):c.5070C>T (p.Ser1690=) rs372367100 0.00002
NM_001165963.4(SCN1A):c.5277A>C (p.Pro1759=) rs1044871344 0.00002
NM_001165963.4(SCN1A):c.3120G>T (p.Arg1040Ser) rs1373733895 0.00001
NM_001165963.4(SCN1A):c.3152T>C (p.Leu1051Pro) rs776055539 0.00001
NM_001165963.4(SCN1A):c.3496C>A (p.Gln1166Lys) rs368609628 0.00001
NM_001165963.4(SCN1A):c.3556G>T (p.Val1186Leu) rs780607306 0.00001
NM_001165963.4(SCN1A):c.3573T>C (p.Cys1191=) rs750943685 0.00001
NM_001165963.4(SCN1A):c.4161C>T (p.Ile1387=) rs761168283 0.00001
NM_001165963.4(SCN1A):c.4717T>C (p.Leu1573=) rs1559110682 0.00001
NM_001165963.4(SCN1A):c.4848T>C (p.Ile1616=) rs1379533666 0.00001
NM_001165963.4(SCN1A):c.5877G>T (p.Met1959Ile) rs763997333 0.00001
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly) rs771936735 0.00001
NM_001165963.4(SCN1A):c.4329T>C (p.Asp1443=)
NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=) rs374087499

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