ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3705+33T>G rs76743139 0.00915
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053 0.00876
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_001165963.4(SCN1A):c.*1864T>A rs150155252 0.00341
NM_001165963.4(SCN1A):c.4002+2422A>G rs185755900 0.00310
NM_001165963.4(SCN1A):c.*677G>A rs142037381 0.00181
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr) rs121918818 0.00084
NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=) rs149579028 0.00073
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_001165963.4(SCN1A):c.*774G>A rs570379164 0.00054
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512 0.00048
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224 0.00047
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058 0.00040
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963 0.00025
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122 0.00019
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) rs121918802 0.00016
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405 0.00011
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973 0.00008
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) rs368785509 0.00008
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458 0.00006
NM_001165963.4(SCN1A):c.4345C>T (p.Leu1449Phe) rs768638174 0.00004
NM_001165963.4(SCN1A):c.4791T>C (p.His1597=) rs141051370 0.00004
NM_001165963.4(SCN1A):c.3387G>A (p.Thr1129=) rs375953445 0.00003
NM_001165963.4(SCN1A):c.4582-3C>T rs747649993 0.00003
NM_001165963.4(SCN1A):c.3220G>A (p.Asp1074Asn) rs751514645 0.00002
NM_001165963.4(SCN1A):c.3638G>A (p.Arg1213Gln) rs566081370 0.00002
NM_001165963.4(SCN1A):c.4783C>A (p.Leu1595Ile) rs756238700 0.00002
NM_001165963.4(SCN1A):c.3224A>G (p.Tyr1075Cys) rs1226603266 0.00001
NM_001165963.4(SCN1A):c.3630G>A (p.Thr1210=) rs377326177 0.00001
NM_001165963.4(SCN1A):c.4389T>C (p.Phe1463=) rs794727375 0.00001
NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu) rs121918632 0.00001
NM_001165963.4(SCN1A):c.4524T>C (p.Tyr1508=) rs778620898 0.00001
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247 0.00001
NM_001165963.4(SCN1A):c.4969C>T (p.Arg1657Cys) rs121918811 0.00001
NM_001165963.4(SCN1A):c.5202C>T (p.Leu1734=) rs140664455 0.00001
NM_001165963.4(SCN1A):c.5430G>A (p.Glu1810=) rs765676433 0.00001
NM_001165963.4(SCN1A):c.5502G>A (p.Ala1834=) rs754566611 0.00001
NM_001165963.4(SCN1A):c.5613T>A (p.Phe1871Leu) rs1354992113 0.00001
NM_001165963.4(SCN1A):c.5877G>T (p.Met1959Ile) rs763997333 0.00001
NM_001165963.4(SCN1A):c.*1872del rs878898132
NM_001165963.4(SCN1A):c.3089_3091delinsAA (p.Ile1030fs) rs2105796316
NM_001165963.4(SCN1A):c.3329G>C (p.Ser1110Thr) rs528170959
NM_001165963.4(SCN1A):c.3347C>A (p.Pro1116Gln) rs1553540184
NM_001165963.4(SCN1A):c.3351del (p.Ile1117fs) rs1696322307
NM_001165963.4(SCN1A):c.3404A>G (p.Glu1135Gly) rs2105793043
NM_001165963.4(SCN1A):c.3422G>T (p.Ser1141Ile)
NM_001165963.4(SCN1A):c.3508G>A (p.Glu1170Lys) rs1553534097
NM_001165963.4(SCN1A):c.3530C>G (p.Pro1177Arg) rs752060724
NM_001165963.4(SCN1A):c.3538T>G (p.Cys1180Gly) rs1574069096
NM_001165963.4(SCN1A):c.3569dup (p.Cys1191fs) rs1692895957
NM_001165963.4(SCN1A):c.3610T>C (p.Trp1204Arg) rs121917930
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro) rs121917963
NM_001165963.4(SCN1A):c.3622A>G (p.Arg1208Gly)
NM_001165963.4(SCN1A):c.3627_3630del (p.Arg1209fs) rs1692878257
NM_001165963.4(SCN1A):c.3632G>A (p.Cys1211Tyr) rs1574060743
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3641T>C (p.Ile1214Thr) rs1692873873
NM_001165963.4(SCN1A):c.3646_3659del (p.Val1215_Glu1216insTer) rs2105610084
NM_001165963.4(SCN1A):c.3656G>A (p.Trp1219Ter) rs1692870117
NM_001165963.4(SCN1A):c.3658T>C (p.Phe1220Leu)
NM_001165963.4(SCN1A):c.3660del (p.Phe1220fs) rs1553532582
NM_001165963.4(SCN1A):c.3698G>A (p.Gly1233Asp) rs1553532470
NM_001165963.4(SCN1A):c.3712G>A (p.Glu1238Lys) rs750364705
NM_001165963.4(SCN1A):c.3717dup (p.Ile1240fs) rs1692581621
NM_001165963.4(SCN1A):c.3724_3725dup (p.Asp1243fs) rs796053072
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.3769_3774del (p.Lys1257_Val1258del) rs2105593011
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro) rs398123592
NM_001165963.4(SCN1A):c.3879+5G>A rs796052999
NM_001165963.4(SCN1A):c.3885A>G (p.Ser1295=) rs2105571546
NM_001165963.4(SCN1A):c.3887T>C (p.Leu1296Ser) rs1553529633
NM_001165963.4(SCN1A):c.3908C>T (p.Ala1303Val)
NM_001165963.4(SCN1A):c.3926T>G (p.Leu1309Arg) rs1553529527
NM_001165963.4(SCN1A):c.3957_3958del (p.Arg1319fs) rs1692162437
NM_001165963.4(SCN1A):c.4002+2455G>C
NM_001165963.4(SCN1A):c.4027G>A (p.Ala1343Thr) rs796053006
NM_001165963.4(SCN1A):c.4040T>C (p.Ile1347Thr) rs1553525325
NM_001165963.4(SCN1A):c.4050G>A (p.Val1350=) rs2105510228
NM_001165963.4(SCN1A):c.4052T>C (p.Leu1351Pro) rs1553525313
NM_001165963.4(SCN1A):c.4126T>A (p.Cys1376Ser) rs2105509369
NM_001165963.4(SCN1A):c.4152G>A (p.Arg1384=) rs1691062261
NM_001165963.4(SCN1A):c.4156G>T (p.Asp1386Tyr) rs1691061383
NM_001165963.4(SCN1A):c.4190T>C (p.Leu1397Pro) rs2105508551
NM_001165963.4(SCN1A):c.4205_4208del (p.Arg1402fs) rs1691048388
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter) rs398123593
NM_001165963.4(SCN1A):c.4284+5G>A rs1064797264
NM_001165963.4(SCN1A):c.4285-4A>G rs796053007
NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg) rs121918789
NM_001165963.4(SCN1A):c.4341G>A (p.Val1447=) rs1478635537
NM_001165963.4(SCN1A):c.4343A>G (p.Glu1448Gly)
NM_001165963.4(SCN1A):c.4348C>T (p.Gln1450Ter) rs121918806
NM_001165963.4(SCN1A):c.4378T>C (p.Tyr1460His) rs1573984593
NM_001165963.4(SCN1A):c.4386C>G (p.Tyr1462Ter) rs587781146
NM_001165963.4(SCN1A):c.4401C>A (p.Ile1467=) rs1690335252
NM_001165963.4(SCN1A):c.4431G>T (p.Leu1477=)
NM_001165963.4(SCN1A):c.4433T>A (p.Phe1478Tyr) rs2105475961
NM_001165963.4(SCN1A):c.4497T>C (p.Phe1499=) rs2105462579
NM_001165963.4(SCN1A):c.4529C>T (p.Ala1510Val) rs796053019
NM_001165963.4(SCN1A):c.4581+4A>G rs1689985134
NM_001165963.4(SCN1A):c.4582-11T>G
NM_001165963.4(SCN1A):c.4687G>C (p.Asp1563His)
NM_001165963.4(SCN1A):c.4727T>C (p.Ile1576Thr) rs2105448524
NM_001165963.4(SCN1A):c.4734G>T (p.Leu1578=)
NM_001165963.4(SCN1A):c.4764T>A (p.Cys1588Ter) rs1553520980
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) rs121917993
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.4(SCN1A):c.4810T>C (p.Trp1604Arg) rs1573962964
NM_001165963.4(SCN1A):c.4852+1G>A rs1573962555
NM_001165963.4(SCN1A):c.4852+2T>A rs1689669178
NM_001165963.4(SCN1A):c.4859T>C (p.Phe1620Ser) rs1317010570
NM_001165963.4(SCN1A):c.4905C>G (p.Phe1635Leu) rs774858072
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter) rs199727342
NM_001165963.4(SCN1A):c.4906del (p.Arg1636fs) rs1553520483
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) rs121917995
NM_001165963.4(SCN1A):c.4929T>C (p.Ile1643=) rs1573952870
NM_001165963.4(SCN1A):c.4931G>A (p.Gly1644Asp) rs796053030
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter) rs794726759
NM_001165963.4(SCN1A):c.4943G>C (p.Arg1648Pro)
NM_001165963.4(SCN1A):c.4953A>G (p.Lys1651=)
NM_001165963.4(SCN1A):c.4990A>C (p.Met1664Leu) rs1689339718
NM_001165963.4(SCN1A):c.5008T>C (p.Leu1670=)
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs) rs794726754
NM_001165963.4(SCN1A):c.5022C>T (p.Gly1674=) rs1689327411
NM_001165963.4(SCN1A):c.5053G>T (p.Ala1685Ser) rs760249153
NM_001165963.4(SCN1A):c.5115del (p.Phe1705fs)
NM_001165963.4(SCN1A):c.5126C>A (p.Thr1709Asn) rs121918629
NM_001165963.4(SCN1A):c.5214A>T (p.Pro1738=) rs1553520290
NM_001165963.4(SCN1A):c.5218G>T (p.Asp1740Tyr) rs796053035
NM_001165963.4(SCN1A):c.5278T>C (p.Ser1760Pro)
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr) rs121917980
NM_001165963.4(SCN1A):c.5349G>C (p.Ala1783=) rs369500022
NM_001165963.4(SCN1A):c.5368A>G (p.Ser1790Gly) rs2105428797
NM_001165963.4(SCN1A):c.5389G>A (p.Ala1797Thr) rs794727413
NM_001165963.4(SCN1A):c.5404G>A (p.Glu1802Lys) rs794726780
NM_001165963.4(SCN1A):c.5436G>C (p.Trp1812Cys) rs863225037
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr) rs1559101839
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val) rs780809852
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.5615del (p.Thr1872fs) rs1553520001
NM_001165963.4(SCN1A):c.5670A>G (p.Glu1890=) rs1057519211
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) rs794726739
NM_001165963.4(SCN1A):c.5691T>G (p.Asn1897Lys) rs1689157351
NM_001165963.4(SCN1A):c.5716A>G (p.Ile1906Val) rs1689151041
NM_001165963.4(SCN1A):c.5717T>C (p.Ile1906Thr) rs1689150507
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile) rs121918793
NM_001165963.4(SCN1A):c.5734C>T (p.Arg1912Ter) rs77216276
NM_001165963.4(SCN1A):c.5741_5742del (p.Gln1914fs) rs1689146216
NM_001165963.4(SCN1A):c.5865A>G (p.Ile1955Met) rs796052952
NM_001165963.4(SCN1A):c.5876T>C (p.Met1959Thr) rs1368302993
NM_001165963.4(SCN1A):c.5888G>C (p.Arg1963Thr)
NM_001165963.4(SCN1A):c.5962C>T (p.Arg1988Trp) rs756519197
NM_001165963.4(SCN1A):c.6009_6013dup (p.Lys2005fs) rs1553519690

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