ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 76
Download table as spreadsheet
HGVS dbSNP
NM_001365536.1(SCN9A):c.1109C>T (p.Thr370Met) rs200391162
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203
NM_001365536.1(SCN9A):c.1149C>T (p.Val383=) rs794726989
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962
NM_001365536.1(SCN9A):c.1177C>T (p.Leu393=) rs184773311
NM_001365536.1(SCN9A):c.1238T>C (p.Ile413Thr) rs200689195
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180
NM_001365536.1(SCN9A):c.1286G>A (p.Arg429His) rs367556839
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673
NM_001365536.1(SCN9A):c.1314+7T>C rs371482199
NM_001365536.1(SCN9A):c.1326G>A (p.Ala442=) rs200065104
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=) rs200682458
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572
NM_001365536.1(SCN9A):c.1714G>A (p.Asp572Asn) rs747040987
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.1975-12dup rs35888674
NM_001365536.1(SCN9A):c.1975-3del rs35888674
NM_001365536.1(SCN9A):c.1975-8T>A rs752961542
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) rs200014315
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919
NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His) rs200374987
NM_001365536.1(SCN9A):c.2085A>G (p.Ile695Met) rs199588089
NM_001365536.1(SCN9A):c.2104+7A>G rs886042850
NM_001365536.1(SCN9A):c.2105-14C>T rs6432893
NM_001365536.1(SCN9A):c.2105-15G>A rs4525717
NM_001365536.1(SCN9A):c.2105-8T>A rs1471044025
NM_001365536.1(SCN9A):c.2220T>G (p.Ile740Met) rs375688386
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354
NM_001365536.1(SCN9A):c.2409T>C (p.Tyr803=) rs142219317
NM_001365536.1(SCN9A):c.2422T>C (p.Trp808Arg) rs147639592
NM_001365536.1(SCN9A):c.2649C>T (p.Val883=) rs200618289
NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=) rs199653503
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318
NM_001365536.1(SCN9A):c.2874+4T>C rs372584040
NM_001365536.1(SCN9A):c.2964C>T (p.Leu988=) rs201430964
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876
NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His) rs188145203
NM_001365536.1(SCN9A):c.3051G>C (p.Lys1017Asn) rs147623238
NM_001365536.1(SCN9A):c.3157C>T (p.Leu1053Phe) rs374531355
NM_001365536.1(SCN9A):c.3195C>T (p.Ser1065=) rs111674454
NM_001365536.1(SCN9A):c.3329C>T (p.Ser1110Leu) rs145258166
NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu) rs200817435
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp) rs190664764
NM_001365536.1(SCN9A):c.3403C>T (p.Pro1135Ser) rs184563685
NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr) rs750839038
NM_001365536.1(SCN9A):c.3506A>C (p.Asn1169Thr) rs151241025
NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr) rs73019664
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=) rs77144869
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) rs144941725
NM_001365536.1(SCN9A):c.3759T>C (p.Tyr1253=) rs201640757
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748
NM_001365536.1(SCN9A):c.4073G>A (p.Arg1358Gln) rs200163716
NM_001365536.1(SCN9A):c.4110T>C (p.Cys1370=) rs199673396
NM_001365536.1(SCN9A):c.4197G>A (p.Leu1399=) rs201258222
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile) rs149346064
NM_001365536.1(SCN9A):c.4356C>T (p.Phe1452=) rs201145311
NM_001365536.1(SCN9A):c.4399-10_4399-7del rs77944059
NM_001365536.1(SCN9A):c.4413C>T (p.Asp1471=) rs727504144
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=) rs187558439
NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg) rs202084411
NM_001365536.1(SCN9A):c.4941C>T (p.Ile1647=) rs747837371
NM_001365536.1(SCN9A):c.5235C>A (p.Ile1745=) rs794727440
NM_001365536.1(SCN9A):c.5569del (p.Asp1857fs) rs1553472910
NM_001365536.1(SCN9A):c.5750T>C (p.Ile1917Thr) rs200876442
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) rs3750904
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968
NM_001365536.1(SCN9A):c.5791G>C (p.Asp1931His) rs200410805
NM_001365536.1(SCN9A):c.5949C>G (p.Ser1983Arg) rs201640210
NM_001365536.1(SCN9A):c.5963A>T (p.Lys1988Ile) rs780795130

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.