ClinVar Miner

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

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Total variants: 92
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HGVS dbSNP
NM_006920.6(SCN1A):c.3396G>A (p.Glu1132=) rs796052994
NM_006920.6(SCN1A):c.3415_3418del (p.Ser1139fs) rs1064794495
NM_006920.6(SCN1A):c.3424G>T (p.Glu1142Ter) rs1553534233
NM_006920.6(SCN1A):c.3520T>C (p.Cys1174Arg) rs1553532782
NM_006920.6(SCN1A):c.3650T>G (p.Ile1217Ser) rs796052997
NM_006920.6(SCN1A):c.3743T>C (p.Phe1248Ser) rs398123591
NM_006920.6(SCN1A):c.3767T>C (p.Met1256Thr) rs1064795355
NM_006920.6(SCN1A):c.3785C>T (p.Ala1262Val) rs794726841
NM_006920.6(SCN1A):c.3791G>A (p.Gly1264Asp) rs796053000
NM_006920.6(SCN1A):c.3817T>C (p.Trp1273Arg) rs796053001
NM_006920.6(SCN1A):c.3829G>C (p.Asp1277His) rs1553531134
NM_006920.6(SCN1A):c.3846+5G>A rs796052999
NM_006920.6(SCN1A):c.3896_3937del (p.Gly1299_Leu1313delinsVal) rs1064795733
NM_006920.6(SCN1A):c.3905A>C (p.Lys1302Thr) rs1064795239
NM_006920.6(SCN1A):c.3920_3923del (p.Leu1307fs) rs1064796964
NM_006920.6(SCN1A):c.3935C>A (p.Pro1312His) rs1057521746
NM_006920.6(SCN1A):c.4011G>C (p.Met1337Ile) rs794726822
NM_006920.6(SCN1A):c.4027T>C (p.Cys1343Arg) rs1131691461
NM_006920.6(SCN1A):c.4028G>C (p.Cys1343Ser) rs1057521537
NM_006920.6(SCN1A):c.4063G>T (p.Val1355Leu) rs121918805
NM_006920.6(SCN1A):c.4078G>C (p.Gly1360Arg) rs1064795303
NM_006920.6(SCN1A):c.4100A>C (p.Asn1367Thr) rs1131691775
NM_006920.6(SCN1A):c.4138A>C (p.Asn1380His) rs1295072436
NM_006920.6(SCN1A):c.4139A>G (p.Asn1380Ser) rs1553525062
NM_006920.6(SCN1A):c.4159A>T (p.Lys1387Ter) rs1553525023
NM_006920.6(SCN1A):c.4222G>T (p.Gly1408Ter) rs1085307893
NM_006920.6(SCN1A):c.4229G>A (p.Gly1410Glu) rs1064795756
NM_006920.6(SCN1A):c.4247A>T (p.Gln1416Leu) rs1057518062
NM_006920.6(SCN1A):c.4271T>A (p.Met1424Lys) rs796053009
NM_006920.6(SCN1A):c.4288G>A (p.Ala1430Thr) rs121917974
NM_006920.6(SCN1A):c.4379C>A (p.Ser1460Tyr) rs794726809
NM_006920.6(SCN1A):c.4405G>T (p.Gly1469Cys) rs796053015
NM_006920.6(SCN1A):c.4408G>A (p.Val1470Ile) rs1085307484
NM_006920.6(SCN1A):c.4460T>A (p.Ile1487Asn) rs796053017
NM_006920.6(SCN1A):c.4478A>T (p.Gln1493Leu) rs796053018
NM_006920.6(SCN1A):c.4499T>G (p.Met1500Arg) rs1553521507
NM_006920.6(SCN1A):c.4510G>A (p.Gly1504Arg) rs796053020
NM_006920.6(SCN1A):c.4514C>T (p.Ser1505Leu) rs139300715
NM_006920.6(SCN1A):c.4523C>T (p.Pro1508Leu) rs372425457
NM_006920.6(SCN1A):c.4548+2T>A rs886039457
NM_006920.6(SCN1A):c.4548+2T>C rs886039457
NM_006920.6(SCN1A):c.4597G>C (p.Asp1533His) rs1131691367
NM_006920.6(SCN1A):c.4641G>A (p.Met1547Ile) rs796053023
NM_006920.6(SCN1A):c.4668A>G (p.Glu1556=) rs796053025
NM_006920.6(SCN1A):c.4729T>C (p.Cys1577Arg) rs121917919
NM_006920.6(SCN1A):c.4760A>T (p.Tyr1587Phe) rs377325221
NM_006920.6(SCN1A):c.4880T>A (p.Ile1627Asn) rs1057521079
NM_006920.6(SCN1A):c.4883G>C (p.Arg1628Pro) rs796053029
NM_006920.6(SCN1A):c.4893G>T (p.Arg1631Ser) rs1131691581
NM_006920.6(SCN1A):c.4921G>T (p.Gly1641Ter) rs1553520442
NM_006920.6(SCN1A):c.4939A>C (p.Thr1647Pro) rs1064794766
NM_006920.6(SCN1A):c.4962G>A (p.Met1654Ile) rs796053031
NM_006920.6(SCN1A):c.4966C>T (p.Leu1656Phe) rs796053032
NM_006920.6(SCN1A):c.4967T>C (p.Leu1656Pro) rs1131691774
NM_006920.6(SCN1A):c.4985_4986delinsAG (p.Ile1662Lys) rs1553520404
NM_006920.6(SCN1A):c.5020G>T (p.Ala1674Ser) rs760249153
NM_006920.6(SCN1A):c.5071G>T (p.Asp1691Tyr) rs748333147
NM_006920.6(SCN1A):c.5088T>A (p.Phe1696Leu) rs796053033
NM_006920.6(SCN1A):c.5088T>G (p.Phe1696Leu) rs796053033
NM_006920.6(SCN1A):c.5098G>A (p.Gly1700Ser) rs796053098
NM_006920.6(SCN1A):c.5131A>G (p.Thr1711Ala) rs1553520321
NM_006920.6(SCN1A):c.5135C>T (p.Ser1712Phe) rs796053099
NM_006920.6(SCN1A):c.5156T>C (p.Leu1719Pro) rs796053100
NM_006920.6(SCN1A):c.5185G>A (p.Asp1729Asn) rs796053035
NM_006920.6(SCN1A):c.5212G>A (p.Gly1738Arg) rs1057518258
NM_006920.6(SCN1A):c.5228G>T (p.Gly1743Val) rs796053036
NM_006920.6(SCN1A):c.5237G>A (p.Gly1746Glu) rs1085307930
NM_006920.6(SCN1A):c.5242C>T (p.Pro1748Ser) rs1064794630
NM_006920.6(SCN1A):c.5249T>C (p.Val1750Ala) rs1057518252
NM_006920.6(SCN1A):c.5258T>A (p.Phe1753Tyr) rs796053037
NM_006920.6(SCN1A):c.5261T>G (p.Phe1754Cys) rs1553520199
NM_006920.6(SCN1A):c.5266del (p.Val1756fs) rs1553520197
NM_006920.6(SCN1A):c.5273A>G (p.Tyr1758Cys) rs886039460
NM_006920.6(SCN1A):c.5305A>G (p.Met1769Val) rs1085307945
NM_006920.6(SCN1A):c.5328G>T (p.Glu1776Asp) rs796053038
NM_006920.6(SCN1A):c.5342C>A (p.Ala1781Asp) rs1085307942
NM_006920.6(SCN1A):c.5350G>C (p.Glu1784Gln) rs121918813
NM_006920.6(SCN1A):c.5401T>G (p.Trp1801Gly) rs121918751
NM_006920.6(SCN1A):c.5419del (p.Asp1807fs) rs1131691500
NM_006920.6(SCN1A):c.5450T>C (p.Leu1817Ser) rs1131691599
NM_006920.6(SCN1A):c.5453del (p.Ser1818fs) rs1064796990
NM_006920.6(SCN1A):c.5473G>T (p.Glu1825Ter) rs1064795579
NM_006920.6(SCN1A):c.5530C>T (p.Pro1844Ser) rs794727415
NM_006920.6(SCN1A):c.5531C>T (p.Pro1844Leu) rs1057517958
NM_006920.6(SCN1A):c.5549G>A (p.Arg1850Gln) rs796053042
NM_006920.6(SCN1A):c.5567T>C (p.Ile1856Thr) rs1131691773
NM_006920.6(SCN1A):c.5594T>C (p.Leu1865Pro) rs796053044
NM_006920.6(SCN1A):c.5693C>T (p.Thr1898Ile) rs121918793
NM_006920.6(SCN1A):c.5710G>A (p.Glu1904Lys) rs796053045
NM_006920.6(SCN1A):c.5720C>T (p.Ser1907Phe) rs796053048
NM_006920.6(SCN1A):c.5732T>C (p.Ile1911Thr) rs121917981
NM_006920.6(SCN1A):c.5773A>G (p.Lys1925Glu) rs796053049

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