ClinVar Miner

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

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Gene type:
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Total variants: 45
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HGVS dbSNP
NM_001365536.1(SCN9A):c.1109C>T (p.Thr370Met) rs200391162
NM_001365536.1(SCN9A):c.1149C>T (p.Val383=) rs794726989
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.1286G>A (p.Arg429His) rs367556839
NM_001365536.1(SCN9A):c.1314+7T>C rs371482199
NM_001365536.1(SCN9A):c.1326G>A (p.Ala442=) rs200065104
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=) rs200682458
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.1975-8T>A rs752961542
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) rs200014315
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.2105-8T>A rs1471044025
NM_001365536.1(SCN9A):c.2220T>G (p.Ile740Met) rs375688386
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.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.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.3403C>T (p.Pro1135Ser) rs184563685
NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr) rs750839038
NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr) rs73019664
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.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.4413C>T (p.Asp1471=) rs727504144
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=) rs187558439
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.5750T>C (p.Ile1917Thr) rs200876442
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

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