ClinVar Miner

List of variants in gene SCN8A reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 61
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479 0.00017
NM_001330260.2(SCN8A):c.5795G>C (p.Arg1932Pro) rs371766742 0.00016
NM_001330260.2(SCN8A):c.5761A>C (p.Thr1921Pro) rs368796221 0.00011
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315 0.00006
NM_001330260.2(SCN8A):c.1779G>C (p.Glu593Asp) rs760717246 0.00005
NM_001330260.2(SCN8A):c.5506A>G (p.Met1836Val) rs202187894 0.00003
NM_001330260.2(SCN8A):c.5719C>T (p.Arg1907Trp) rs760444517 0.00003
NM_001330260.2(SCN8A):c.1588C>T (p.Arg530Trp) rs761336234 0.00002
NM_001330260.2(SCN8A):c.2002A>G (p.Thr668Ala) rs556325115 0.00002
NM_001330260.2(SCN8A):c.2691T>C (p.Phe897=) rs1057519119 0.00002
NM_001330260.2(SCN8A):c.3267C>A (p.Asn1089Lys) rs761386688 0.00002
NM_001330260.2(SCN8A):c.340A>G (p.Ile114Val) rs527246057 0.00002
NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp) rs1218269439 0.00001
NM_001330260.2(SCN8A):c.3044T>C (p.Val1015Ala) rs1423546979 0.00001
NM_001330260.2(SCN8A):c.3327C>T (p.Asn1109=) rs1349215930 0.00001
NM_001330260.2(SCN8A):c.5847T>C (p.Ser1949=) rs751637843 0.00001
NM_001330260.2(SCN8A):c.1402G>A (p.Glu468Lys) rs1555219703
NM_001330260.2(SCN8A):c.1541A>G (p.Lys514Arg) rs1592393860
NM_001330260.2(SCN8A):c.1661C>T (p.Pro554Leu)
NM_001330260.2(SCN8A):c.1829G>T (p.Arg610Leu) rs1438139623
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1]) rs758276968
NM_001330260.2(SCN8A):c.2188T>C (p.Phe730Leu) rs923938885
NM_001330260.2(SCN8A):c.2359G>A (p.Val787Ile) rs1178470597
NM_001330260.2(SCN8A):c.2654T>C (p.Ile885Thr) rs1942829127
NM_001330260.2(SCN8A):c.2926C>T (p.Leu976Phe) rs1942877999
NM_001330260.2(SCN8A):c.2966A>T (p.Asp989Val) rs1942878597
NM_001330260.2(SCN8A):c.307C>A (p.Leu103Ile) rs1941382009
NM_001330260.2(SCN8A):c.3137C>A (p.Ala1046Asp) rs1344073985
NM_001330260.2(SCN8A):c.3149G>C (p.Gly1050Ala) rs2138868637
NM_001330260.2(SCN8A):c.3229T>C (p.Tyr1077His)
NM_001330260.2(SCN8A):c.3307T>A (p.Ser1103Thr)
NM_001330260.2(SCN8A):c.345A>C (p.Leu115Phe)
NM_001330260.2(SCN8A):c.3487G>A (p.Glu1163Lys) rs1555226298
NM_001330260.2(SCN8A):c.3490+3G>A rs1592152117
NM_001330260.2(SCN8A):c.3512G>A (p.Cys1171Tyr) rs2138871534
NM_001330260.2(SCN8A):c.3945G>A (p.Val1315=) rs1555228304
NM_001330260.2(SCN8A):c.4357TTC[1] (p.Phe1454del) rs2138909604
NM_001330260.2(SCN8A):c.439G>A (p.Val147Ile)
NM_001330260.2(SCN8A):c.4412A>T (p.Lys1471Met) rs1057519120
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_001330260.2(SCN8A):c.4496A>G (p.Lys1499Arg) rs1938216429
NM_001330260.2(SCN8A):c.4575C>G (p.Asp1525Glu)
NM_001330260.2(SCN8A):c.4594A>G (p.Ile1532Val) rs1555229496
NM_001330260.2(SCN8A):c.4771G>A (p.Val1591Met) rs1565929209
NM_001330260.2(SCN8A):c.4840A>G (p.Thr1614Ala) rs1555230909
NM_001330260.2(SCN8A):c.4870A>G (p.Ile1624Val) rs2138942352
NM_001330260.2(SCN8A):c.4983C>T (p.Val1661=) rs1938705533
NM_001330260.2(SCN8A):c.5149C>T (p.Arg1717Cys)
NM_001330260.2(SCN8A):c.5179C>A (p.His1727Asn)
NM_001330260.2(SCN8A):c.5181C>A (p.His1727Gln) rs1057519190
NM_001330260.2(SCN8A):c.5280G>A (p.Met1760Ile) rs1555231013
NM_001330260.2(SCN8A):c.5561G>A (p.Arg1854Gln)
NM_001330260.2(SCN8A):c.5575A>G (p.Ser1859Gly) rs1938722293
NM_001330260.2(SCN8A):c.5593C>G (p.Leu1865Val) rs1288157626
NM_001330260.2(SCN8A):c.5672G>A (p.Arg1891His) rs1555231135
NM_001330260.2(SCN8A):c.5840A>G (p.Tyr1947Cys)
NM_001330260.2(SCN8A):c.859A>C (p.Asn287His) rs2138735873
NM_001330260.2(SCN8A):c.892_894dup (p.Lys298_Gly299insLys)
NM_001330260.2(SCN8A):c.896G>A (p.Gly299Asp)
NM_001330260.2(SCN8A):c.920A>G (p.Asn307Ser) rs1057519557
NM_014191.4(SCN8A):c.655C>G (p.Leu219Val)

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.