ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 109
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln) rs121917912 0.00001
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591 0.00001
NM_001165963.4(SCN1A):c.4574G>A (p.Arg1525Gln) rs1559114408 0.00001
NM_001165963.4(SCN1A):c.5275C>T (p.Pro1759Ser) rs1064794630 0.00001
NM_001165963.4(SCN1A):c.5291T>A (p.Phe1764Tyr) rs796053037 0.00001
NM_001165963.4(SCN1A):c.5421G>A (p.Met1807Ile) rs1689220137 0.00001
NM_001165963.4(SCN1A):c.3235G>A (p.Val1079Ile)
NM_001165963.4(SCN1A):c.3429G>C (p.Glu1143Asp) rs796052994
NM_001165963.4(SCN1A):c.3448_3451del (p.Ser1150fs) rs1064794495
NM_001165963.4(SCN1A):c.3457G>T (p.Glu1153Ter) rs1553534233
NM_001165963.4(SCN1A):c.3553T>C (p.Cys1185Arg) rs1553532782
NM_001165963.4(SCN1A):c.3683T>G (p.Ile1228Ser) rs796052997
NM_001165963.4(SCN1A):c.3710T>C (p.Phe1237Ser) rs1553531410
NM_001165963.4(SCN1A):c.3715G>C (p.Asp1239His) rs2105594076
NM_001165963.4(SCN1A):c.3800T>C (p.Met1267Thr) rs1064795355
NM_001165963.4(SCN1A):c.3818C>T (p.Ala1273Val) rs794726841
NM_001165963.4(SCN1A):c.3820T>A (p.Tyr1274Asn) rs2105592343
NM_001165963.4(SCN1A):c.3824G>A (p.Gly1275Asp) rs796053000
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg) rs796053001
NM_001165963.4(SCN1A):c.3862G>C (p.Asp1288His) rs1553531134
NM_001165963.4(SCN1A):c.3879+5G>A rs796052999
NM_001165963.4(SCN1A):c.3929_3970del (p.Gly1310_Leu1324delinsVal) rs1064795733
NM_001165963.4(SCN1A):c.3932C>T (p.Ala1311Val) rs2105570494
NM_001165963.4(SCN1A):c.3938A>C (p.Lys1313Thr) rs1064795239
NM_001165963.4(SCN1A):c.3953_3956del (p.Leu1318fs) rs1064796964
NM_001165963.4(SCN1A):c.3968C>A (p.Pro1323His) rs1057521746
NM_001165963.4(SCN1A):c.4027G>T (p.Ala1343Ser) rs796053006
NM_001165963.4(SCN1A):c.4044G>C (p.Met1348Ile) rs794726822
NM_001165963.4(SCN1A):c.4060T>C (p.Cys1354Arg) rs1131691461
NM_001165963.4(SCN1A):c.4061G>C (p.Cys1354Ser) rs1057521537
NM_001165963.4(SCN1A):c.4074G>T (p.Trp1358Cys) rs1553525267
NM_001165963.4(SCN1A):c.4096G>T (p.Val1366Leu) rs121918805
NM_001165963.4(SCN1A):c.4111G>C (p.Gly1371Arg) rs1064795303
NM_001165963.4(SCN1A):c.4133A>C (p.Asn1378Thr) rs1131691775
NM_001165963.4(SCN1A):c.4172A>G (p.Asn1391Ser) rs1553525062
NM_001165963.4(SCN1A):c.4192A>T (p.Lys1398Ter) rs1553525023
NM_001165963.4(SCN1A):c.4255G>T (p.Gly1419Ter) rs1085307893
NM_001165963.4(SCN1A):c.4262G>A (p.Gly1421Glu) rs1064795756
NM_001165963.4(SCN1A):c.4280A>T (p.Gln1427Leu) rs1057518062
NM_001165963.4(SCN1A):c.4304T>A (p.Met1435Lys) rs796053009
NM_001165963.4(SCN1A):c.4321G>A (p.Ala1441Thr) rs121917974
NM_001165963.4(SCN1A):c.4412C>A (p.Ser1471Tyr) rs794726809
NM_001165963.4(SCN1A):c.4436T>C (p.Ile1479Thr)
NM_001165963.4(SCN1A):c.4438G>T (p.Gly1480Cys) rs796053015
NM_001165963.4(SCN1A):c.4441G>A (p.Val1481Ile) rs1085307484
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=) rs1085307730
NM_001165963.4(SCN1A):c.4493T>A (p.Ile1498Asn) rs796053017
NM_001165963.4(SCN1A):c.4511A>T (p.Gln1504Leu) rs796053018
NM_001165963.4(SCN1A):c.4532T>G (p.Met1511Arg) rs1553521507
NM_001165963.4(SCN1A):c.4577C>G (p.Pro1526Arg) rs796053022
NM_001165963.4(SCN1A):c.4581+2T>A rs886039457
NM_001165963.4(SCN1A):c.4581+2T>C rs886039457
NM_001165963.4(SCN1A):c.4630G>C (p.Asp1544His) rs1131691367
NM_001165963.4(SCN1A):c.4667T>C (p.Val1556Ala)
NM_001165963.4(SCN1A):c.4701A>G (p.Glu1567=) rs796053025
NM_001165963.4(SCN1A):c.4762T>C (p.Cys1588Arg) rs121917919
NM_001165963.4(SCN1A):c.4763G>A (p.Cys1588Tyr) rs1553520982
NM_001165963.4(SCN1A):c.4830_4836delinsAGGTAATGG (p.Val1611fs) rs1573962628
NM_001165963.4(SCN1A):c.4913T>A (p.Ile1638Asn)
NM_001165963.4(SCN1A):c.4916G>C (p.Arg1639Pro) rs796053029
NM_001165963.4(SCN1A):c.4926G>T (p.Arg1642Ser) rs1131691581
NM_001165963.4(SCN1A):c.4954G>T (p.Gly1652Ter) rs1553520442
NM_001165963.4(SCN1A):c.4965del (p.Ile1656fs) rs1573952473
NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro) rs1064794766
NM_001165963.4(SCN1A):c.4995G>A (p.Met1665Ile) rs796053031
NM_001165963.4(SCN1A):c.4999C>T (p.Leu1667Phe) rs796053032
NM_001165963.4(SCN1A):c.5000T>C (p.Leu1667Pro) rs1131691774
NM_001165963.4(SCN1A):c.5018T>C (p.Ile1673Thr) rs2105433516
NM_001165963.4(SCN1A):c.5018_5019delinsAG (p.Ile1673Lys) rs1553520404
NM_001165963.4(SCN1A):c.5020G>A (p.Gly1674Ser) rs121918792
NM_001165963.4(SCN1A):c.5053G>T (p.Ala1685Ser) rs760249153
NM_001165963.4(SCN1A):c.5104G>T (p.Asp1702Tyr) rs748333147
NM_001165963.4(SCN1A):c.5121T>A (p.Phe1707Leu) rs796053033
NM_001165963.4(SCN1A):c.5121T>G (p.Phe1707Leu) rs796053033
NM_001165963.4(SCN1A):c.5131G>A (p.Gly1711Ser) rs796053098
NM_001165963.4(SCN1A):c.5164A>G (p.Thr1722Ala) rs1553520321
NM_001165963.4(SCN1A):c.5168C>T (p.Ser1723Phe) rs796053099
NM_001165963.4(SCN1A):c.5189T>C (p.Leu1730Pro) rs796053100
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn) rs796053035
NM_001165963.4(SCN1A):c.5245G>A (p.Gly1749Arg) rs1057518258
NM_001165963.4(SCN1A):c.5261G>T (p.Gly1754Val) rs796053036
NM_001165963.4(SCN1A):c.5270G>A (p.Gly1757Glu) rs1085307930
NM_001165963.4(SCN1A):c.5282T>C (p.Val1761Ala) rs1057518252
NM_001165963.4(SCN1A):c.5294T>G (p.Phe1765Cys) rs1553520199
NM_001165963.4(SCN1A):c.5299del (p.Val1767fs) rs1553520197
NM_001165963.4(SCN1A):c.5306A>G (p.Tyr1769Cys) rs886039460
NM_001165963.4(SCN1A):c.5338A>G (p.Met1780Val) rs1085307945
NM_001165963.4(SCN1A):c.5361G>T (p.Glu1787Asp) rs796053038
NM_001165963.4(SCN1A):c.5375C>A (p.Ala1792Asp) rs1085307942
NM_001165963.4(SCN1A):c.5383G>C (p.Glu1795Gln) rs121918813
NM_001165963.4(SCN1A):c.5429A>G (p.Glu1810Gly)
NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly) rs121918751
NM_001165963.4(SCN1A):c.5442G>C (p.Lys1814Asn)
NM_001165963.4(SCN1A):c.5452del (p.Asp1818fs) rs1131691500
NM_001165963.4(SCN1A):c.5483T>C (p.Leu1828Ser) rs1131691599
NM_001165963.4(SCN1A):c.5486del (p.Ser1829fs) rs1064796990
NM_001165963.4(SCN1A):c.5489_5490insAA (p.Phe1831fs) rs1573945872
NM_001165963.4(SCN1A):c.5495C>A (p.Ala1832Glu) rs2105427061
NM_001165963.4(SCN1A):c.5506G>T (p.Glu1836Ter) rs1064795579
NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser) rs794727415
NM_001165963.4(SCN1A):c.5564C>T (p.Pro1855Leu) rs1057517958
NM_001165963.4(SCN1A):c.5582G>A (p.Arg1861Gln) rs796053042
NM_001165963.4(SCN1A):c.5600T>A (p.Ile1867Asn) rs1131691773
NM_001165963.4(SCN1A):c.5600T>C (p.Ile1867Thr) rs1131691773
NM_001165963.4(SCN1A):c.5719ACT[2] (p.Thr1909del) rs1553519902
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile) rs121918793
NM_001165963.4(SCN1A):c.5753C>T (p.Ser1918Phe) rs796053048
NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr) rs121917981
NM_001165963.4(SCN1A):c.5962C>T (p.Arg1988Trp) rs756519197

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.