ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as likely pathogenic for not provided

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Total variants: 145
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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.3106_3107del (p.Gln1036fs) rs1696373154
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.3530C>G (p.Pro1177Arg) rs752060724
NM_001165963.4(SCN1A):c.3538T>C (p.Cys1180Arg) rs1574069096
NM_001165963.4(SCN1A):c.3553T>C (p.Cys1185Arg) rs1553532782
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro) rs121917963
NM_001165963.4(SCN1A):c.3632G>A (p.Cys1211Tyr) rs1574060743
NM_001165963.4(SCN1A):c.3646G>A (p.Glu1216Lys) rs398123590
NM_001165963.4(SCN1A):c.3658T>C (p.Phe1220Leu)
NM_001165963.4(SCN1A):c.3660del (p.Phe1220fs) rs1553532582
NM_001165963.4(SCN1A):c.3683T>G (p.Ile1228Ser) rs796052997
NM_001165963.4(SCN1A):c.3698G>A (p.Gly1233Asp) rs1553532470
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.3769_3774del (p.Lys1257_Val1258del) rs2105593011
NM_001165963.4(SCN1A):c.3787T>C (p.Phe1263Leu) rs1559144956
NM_001165963.4(SCN1A):c.3800T>C (p.Met1267Thr) rs1064795355
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro) rs398123592
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.3880-1G>A
NM_001165963.4(SCN1A):c.3926T>G (p.Leu1309Arg) rs1553529527
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.4002+1G>T rs1692153643
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.4126T>A (p.Cys1376Ser) rs2105509369
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.4300T>A (p.Trp1434Arg) rs121918789
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.4433T>A (p.Phe1478Tyr) rs2105475961
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.4476+6T>G rs1057523807
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.4548del (p.Lys1518fs) rs796053081
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.4582-11T>G
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.4727T>C (p.Ile1576Thr) rs2105448524
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.4787G>A (p.Arg1596His) rs575368466
NM_001165963.4(SCN1A):c.4830_4836delinsAGGTAATGG (p.Val1611fs) rs1573962628
NM_001165963.4(SCN1A):c.4852+2T>A rs1689669178
NM_001165963.4(SCN1A):c.4859T>C (p.Phe1620Ser) rs1317010570
NM_001165963.4(SCN1A):c.4871T>C (p.Leu1624Pro) rs1689377026
NM_001165963.4(SCN1A):c.4906del (p.Arg1636fs) rs1553520483
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) rs121917995
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.5141T>C (p.Met1714Thr) rs121917949
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.5218G>T (p.Asp1740Tyr) 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.5389G>C (p.Ala1797Pro) rs794727413
NM_001165963.4(SCN1A):c.5392G>T (p.Glu1798Ter)
NM_001165963.4(SCN1A):c.5429A>G (p.Glu1810Gly)
NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly) rs121918751
NM_001165963.4(SCN1A):c.5436G>C (p.Trp1812Cys) rs863225037
NM_001165963.4(SCN1A):c.5442G>C (p.Lys1814Asn)
NM_001165963.4(SCN1A):c.5452del (p.Asp1818fs) rs1131691500
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr) rs1559101839
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.5515C>G (p.Leu1839Val) rs794726801
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.5615del (p.Thr1872fs) rs1553520001
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

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