ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as uncertain significance

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Total variants: 226
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HGVS dbSNP
NM_001165963.1(SCN1A):c.*1121T>C rs886055034
NM_001165963.1(SCN1A):c.*129T>G rs886055040
NM_001165963.1(SCN1A):c.*1482G>A rs886055033
NM_001165963.1(SCN1A):c.*1795G>A rs189183531
NM_001165963.1(SCN1A):c.*1872delT rs878898132
NM_001165963.1(SCN1A):c.*1950G>A rs773354801
NM_001165963.1(SCN1A):c.*1989C>T rs371391758
NM_001165963.1(SCN1A):c.*259T>C rs886055039
NM_001165963.1(SCN1A):c.*460A>C rs746164130
NM_001165963.1(SCN1A):c.*672_*675delGCTT rs886055038
NM_001165963.1(SCN1A):c.*878dupT rs886055037
NM_001165963.1(SCN1A):c.*912T>A rs886055036
NM_001165963.1(SCN1A):c.*977T>C rs886055035
NM_001165963.1(SCN1A):c.3098T>C (p.Phe1033Ser) rs796052992
NM_001165963.1(SCN1A):c.3121A>G (p.Lys1041Glu) rs376649518
NM_001165963.1(SCN1A):c.3165C>A (p.Asn1055Lys) rs797045939
NM_001165963.1(SCN1A):c.3165C>T (p.Asn1055=) rs797045939
NM_001165963.1(SCN1A):c.3168_3170delCAA (p.Asn1056del) rs796053069
NM_001165963.1(SCN1A):c.3176A>T (p.Asp1059Val) rs779306054
NM_001165963.1(SCN1A):c.3220G>A (p.Asp1074Asn) rs751514645
NM_001165963.1(SCN1A):c.3405A>G (p.Glu1135=) rs796052954
NM_001165963.1(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458
NM_001165963.1(SCN1A):c.3513T>C (p.Pro1171=) rs886055044
NM_001165963.1(SCN1A):c.3556G>T (p.Val1186Leu) rs780607306
NM_001165963.1(SCN1A):c.3573T>C (p.Cys1191=) rs750943685
NM_001165963.1(SCN1A):c.3585T>C (p.Asn1195=) rs138181528
NM_001165963.1(SCN1A):c.3650A>G (p.His1217Arg) rs796052996
NM_001165963.1(SCN1A):c.3705+10delA rs570862962
NM_001165963.1(SCN1A):c.3705+5G>A rs1060502189
NM_001165963.1(SCN1A):c.3712G>C (p.Glu1238Gln) rs750364705
NM_001165963.1(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963
NM_001165963.1(SCN1A):c.3752T>C (p.Met1251Thr) rs749638533
NM_001165963.1(SCN1A):c.3772G>A (p.Val1258Ile) rs796052998
NM_001165963.1(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591
NM_001165963.1(SCN1A):c.3866T>C (p.Phe1289Ser) rs794727224
NM_001165963.1(SCN1A):c.3879+5G>A rs796052999
NM_001165963.1(SCN1A):c.3880-10G>C rs886055043
NM_001165963.1(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122
NM_001165963.1(SCN1A):c.4006G>A (p.Val1336Ile) rs796053005
NM_001165963.1(SCN1A):c.4129A>G (p.Ile1377Val) rs762317674
NM_001165963.1(SCN1A):c.4162G>A (p.Glu1388Lys) rs775820803
NM_001165963.1(SCN1A):c.4167C>T (p.Asp1389=) rs376118833
NM_001165963.1(SCN1A):c.4285-4A>G rs796053007
NM_001165963.1(SCN1A):c.4321G>A (p.Ala1441Thr) rs121917974
NM_001165963.1(SCN1A):c.4338+5G>A rs796053011
NM_001165963.1(SCN1A):c.4339-5G>A rs1057522587
NM_001165963.1(SCN1A):c.4345C>T (p.Leu1449Phe) rs768638174
NM_001165963.1(SCN1A):c.4363G>A (p.Glu1455Lys) rs1131691600
NM_001165963.1(SCN1A):c.4369C>G (p.Leu1457Val) rs796053013
NM_001165963.1(SCN1A):c.4476G>A (p.Lys1492=) rs1085307730
NM_001165963.1(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715
NM_001165963.1(SCN1A):c.4555C>A (p.Pro1519Thr) rs796053021
NM_001165963.1(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457
NM_001165963.1(SCN1A):c.4570C>A (p.Pro1524Thr) rs143088184
NM_001165963.1(SCN1A):c.4577C>G (p.Pro1526Arg) rs796053022
NM_001165963.1(SCN1A):c.4581+12C>T rs886055042
NM_001165963.1(SCN1A):c.4582-3C>G rs747649993
NM_001165963.1(SCN1A):c.4584C>A (p.Asn1528Lys) rs398123597
NM_001165963.1(SCN1A):c.4724G>A (p.Arg1575His) rs368834365
NM_001165963.1(SCN1A):c.4731T>C (p.Asn1577=) rs145296488
NM_001165963.1(SCN1A):c.4744G>C (p.Val1582Leu) rs779090130
NM_001165963.1(SCN1A):c.4765G>T (p.Val1589Leu) rs796053027
NM_001165963.1(SCN1A):c.4793A>T (p.Tyr1598Phe) rs377325221
NM_001165963.1(SCN1A):c.4855A>G (p.Met1619Val) rs373967247
NM_001165963.1(SCN1A):c.4872G>A (p.Leu1624=) rs142910512
NM_001165963.1(SCN1A):c.4887C>T (p.Phe1629=) rs587780445
NM_001165963.1(SCN1A):c.4941A>G (p.Leu1647=) rs770111331
NM_001165963.1(SCN1A):c.5306A>G (p.Tyr1769Cys) rs886039460
NM_001165963.1(SCN1A):c.5326G>A (p.Val1776Ile) rs796053101
NM_001165963.1(SCN1A):c.5336A>G (p.Asn1779Ser) rs797045940
NM_001165963.1(SCN1A):c.5346C>T (p.Ile1782=) rs121918763
NM_001165963.1(SCN1A):c.5510C>T (p.Pro1837Leu) rs149225252
NM_001165963.1(SCN1A):c.5532A>G (p.Pro1844=) rs886043063
NM_001165963.1(SCN1A):c.5563C>T (p.Pro1855Ser) rs794727415
NM_001165963.1(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638
NM_001165963.1(SCN1A):c.5620C>T (p.Arg1874Trp) rs796053043
NM_001165963.1(SCN1A):c.5621G>A (p.Arg1874Gln) rs1060502186
NM_001165963.1(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405
NM_001165963.1(SCN1A):c.5677T>C (p.Phe1893Leu) rs1085307686
NM_001165963.1(SCN1A):c.5681T>C (p.Met1894Thr) rs562208324
NM_001165963.1(SCN1A):c.5755G>C (p.Ala1919Pro) rs796053104
NM_001165963.1(SCN1A):c.5770_5790del21 (p.Arg1924_Leu1930del) rs796053088
NM_001165963.1(SCN1A):c.5771G>A (p.Arg1924His) rs3749029
NM_001165963.1(SCN1A):c.5787C>G (p.His1929Gln) rs371253263
NM_001165963.1(SCN1A):c.5797delC (p.Arg1933Glufs) rs587780446
NM_001165963.1(SCN1A):c.5798G>T (p.Arg1933Leu) rs556893466
NM_001165963.1(SCN1A):c.5822C>T (p.Thr1941Met) rs756845310
NM_001165963.1(SCN1A):c.5851G>T (p.Ala1951Ser) rs376656165
NM_001165963.1(SCN1A):c.5852C>T (p.Ala1951Val) rs1057524816
NM_001165963.1(SCN1A):c.5896G>T (p.Glu1966Ter) rs1057524615
NM_001165963.1(SCN1A):c.5912A>G (p.Glu1971Gly) rs771936735
NM_001165963.1(SCN1A):c.5951C>A (p.Pro1984His) rs146733308
NM_001165963.1(SCN1A):c.5992G>C (p.Glu1998Gln) rs886055041
NM_001165963.2(SCN1A):c.3128A>T (p.Lys1043Met) rs1553540334
NM_001165963.2(SCN1A):c.3139G>A (p.Glu1047Lys)
NM_001165963.2(SCN1A):c.3215A>G (p.Asp1072Gly) rs1553540263
NM_001165963.2(SCN1A):c.3224A>G (p.Tyr1075Cys)
NM_001165963.2(SCN1A):c.3355G>A (p.Val1119Ile) rs774410570
NM_001165963.2(SCN1A):c.3368A>C (p.Asp1123Ala)
NM_001165963.2(SCN1A):c.3426A>G (p.Lys1142=) rs753202524
NM_001165963.2(SCN1A):c.3454T>A (p.Ser1152Thr)
NM_001165963.2(SCN1A):c.3502G>A (p.Val1168Ile) rs146374754
NM_001165963.2(SCN1A):c.3512C>T (p.Pro1171Leu)
NM_001165963.2(SCN1A):c.3530C>G (p.Pro1177Arg) rs752060724
NM_001165963.2(SCN1A):c.3539G>T (p.Cys1180Phe) rs1444741563
NM_001165963.2(SCN1A):c.3579A>C (p.Gln1193His)
NM_001165963.2(SCN1A):c.3591A>G (p.Glu1197=) rs371596040
NM_001165963.2(SCN1A):c.3597C>T (p.Gly1199=)
NM_001165963.2(SCN1A):c.3618C>A (p.Asn1206Lys) rs762734890
NM_001165963.2(SCN1A):c.3623G>A (p.Arg1208Lys)
NM_001165963.2(SCN1A):c.3644T>A (p.Val1215Asp)
NM_001165963.2(SCN1A):c.3655T>A (p.Trp1219Arg) rs1553532599
NM_001165963.2(SCN1A):c.3671T>C (p.Ile1224Thr) rs1553532551
NM_001165963.2(SCN1A):c.3698G>A (p.Gly1233Asp) rs1553532470
NM_001165963.2(SCN1A):c.3710T>C (p.Phe1237Ser) rs1553531410
NM_001165963.2(SCN1A):c.3752T>G (p.Met1251Arg)
NM_001165963.2(SCN1A):c.3787T>C (p.Phe1263Leu)
NM_001165963.2(SCN1A):c.3886T>A (p.Leu1296Met) rs375896308
NM_001165963.2(SCN1A):c.3902C>T (p.Ala1301Val) rs1553529579
NM_001165963.2(SCN1A):c.3943C>T (p.Leu1315Phe)
NM_001165963.2(SCN1A):c.3968C>T (p.Pro1323Leu)
NM_001165963.2(SCN1A):c.3989T>C (p.Phe1330Ser)
NM_001165963.2(SCN1A):c.4002+6A>G rs1553529408
NM_001165963.2(SCN1A):c.4027G>T (p.Ala1343Ser) rs796053006
NM_001165963.2(SCN1A):c.4036T>C (p.Ser1346Pro) rs1553525337
NM_001165963.2(SCN1A):c.4057G>T (p.Val1353Phe)
NM_001165963.2(SCN1A):c.4102T>G (p.Leu1368Val) rs1553525227
NM_001165963.2(SCN1A):c.4171A>C (p.Asn1391His) rs1295072436
NM_001165963.2(SCN1A):c.4179T>A (p.His1393Gln) rs772400574
NM_001165963.2(SCN1A):c.4216G>A (p.Ala1406Thr)
NM_001165963.2(SCN1A):c.4216G>T (p.Ala1406Ser)
NM_001165963.2(SCN1A):c.4234A>G (p.Lys1412Glu)
NM_001165963.2(SCN1A):c.4238T>A (p.Val1413Glu)
NM_001165963.2(SCN1A):c.4319C>T (p.Ala1440Val)
NM_001165963.2(SCN1A):c.4339G>C (p.Val1447Leu)
NM_001165963.2(SCN1A):c.4375A>G (p.Met1459Val) rs1553522451
NM_001165963.2(SCN1A):c.4451A>C (p.Asp1484Ala) rs1553522339
NM_001165963.2(SCN1A):c.4512G>C (p.Gln1504His)
NM_001165963.2(SCN1A):c.4567A>G (p.Ile1523Val) rs1474960995
NM_001165963.2(SCN1A):c.4574G>A (p.Arg1525Gln)
NM_001165963.2(SCN1A):c.4612G>A (p.Val1538Ile) rs780360360
NM_001165963.2(SCN1A):c.4651A>T (p.Ile1551Phe) rs1553521053
NM_001165963.2(SCN1A):c.4697G>A (p.Ser1566Asn)
NM_001165963.2(SCN1A):c.4734G>A (p.Leu1578=)
NM_001165963.2(SCN1A):c.4763G>A (p.Cys1588Tyr) rs1553520982
NM_001165963.2(SCN1A):c.4783C>A (p.Leu1595Ile)
NM_001165963.2(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.2(SCN1A):c.4853-3dup rs1553520532
NM_001165963.2(SCN1A):c.4900C>G (p.Leu1634Val) rs1211903272
NM_001165963.2(SCN1A):c.4918C>T (p.Leu1640Phe) rs1553520463
NM_001165963.2(SCN1A):c.4952A>C (p.Lys1651Thr) rs1553520446
NM_001165963.2(SCN1A):c.4976T>C (p.Leu1659Pro)
NM_001165963.2(SCN1A):c.5104G>A (p.Asp1702Asn) rs748333147
NM_001165963.2(SCN1A):c.5117A>C (p.Asn1706Thr) rs1553520340
NM_001165963.2(SCN1A):c.5145C>G (p.Ile1715Met)
NM_001165963.2(SCN1A):c.5171C>T (p.Ala1724Val) rs1553520319
NM_001165963.2(SCN1A):c.5217C>T (p.Pro1739=) rs149315236
NM_001165963.2(SCN1A):c.5263G>T (p.Asp1755Tyr) rs927722314
NM_001165963.2(SCN1A):c.5267G>A (p.Cys1756Tyr)
NM_001165963.2(SCN1A):c.5351T>A (p.Val1784Asp) rs1057518671
NM_001165963.2(SCN1A):c.5407G>A (p.Asp1803Asn) rs1553520143
NM_001165963.2(SCN1A):c.5468T>C (p.Met1823Thr)
NM_001165963.2(SCN1A):c.5501C>T (p.Ala1834Val) rs780809852
NM_001165963.2(SCN1A):c.5513C>G (p.Pro1838Arg) rs1553520084
NM_001165963.2(SCN1A):c.5632G>C (p.Glu1878Gln) rs148703212
NM_001165963.2(SCN1A):c.5657G>A (p.Arg1886Gln)
NM_001165963.2(SCN1A):c.5702T>G (p.Val1901Gly)
NM_001165963.2(SCN1A):c.5777A>G (p.Tyr1926Cys) rs376669368
NM_001165963.2(SCN1A):c.5804T>C (p.Val1935Ala)
NM_001165963.2(SCN1A):c.5809C>G (p.Gln1937Glu) rs1358776988
NM_001165963.2(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341
NM_001165963.2(SCN1A):c.5855_5857delATC (p.Asn1952_Leu1953delinsIle) rs1553519782
NM_001165963.2(SCN1A):c.5877G>T (p.Met1959Ile) rs763997333
NM_001165963.2(SCN1A):c.5882T>C (p.Ile1961Thr)
NM_001165963.2(SCN1A):c.5911G>C (p.Glu1971Gln) rs1553519738
NM_001165963.2(SCN1A):c.5932T>A (p.Ser1978Thr) rs1553519733
NM_001165963.2(SCN1A):c.5963G>A (p.Arg1988Gln) rs769477807
NM_001165963.2(SCN1A):c.5988A>C (p.Lys1996Asn) rs371243629
NM_001165963.2(SCN1A):c.5995C>T (p.Gln1999Ter)
NM_001165963.2(SCN1A):c.6009_6013dup (p.Lys2005Metfs) rs1553519690
NM_006920.4(SCN1A):c.3068T>C (p.Ile1023Thr) rs121918818
NM_006920.4(SCN1A):c.3488C>G (p.Thr1163Ser) rs121918799
NM_006920.4(SCN1A):c.3660T>C (p.Ser1220=) rs121918746
NM_006920.4(SCN1A):c.3681A>C (p.Glu1227Asp) rs121917973
NM_006920.4(SCN1A):c.3699G>A (p.Gln1233=) rs369688121
NM_006920.4(SCN1A):c.3777A>C (p.Lys1259Asn) rs727504135
NM_006920.4(SCN1A):c.3784G>C (p.Ala1262Pro) rs398123592
NM_006920.4(SCN1A):c.3855G>T (p.Leu1285Phe) rs998325208
NM_006920.4(SCN1A):c.3891A>T (p.Glu1297Asp) rs121917910
NM_006920.4(SCN1A):c.3892C>T (p.Leu1298Phe) rs121918801
NM_006920.4(SCN1A):c.3969+2451G>C rs869312684
NM_006920.4(SCN1A):c.3977T>G (p.Val1326Gly) rs794727338
NM_006920.4(SCN1A):c.4209C>G (p.Asn1403Lys) rs398123594
NM_006920.4(SCN1A):c.4251+5G>A rs1064797264
NM_006920.4(SCN1A):c.4251+7G>A rs745918943
NM_006920.4(SCN1A):c.4356T>A (p.Phe1452Leu) rs794727375
NM_006920.4(SCN1A):c.4374T>A (p.Phe1458Leu) rs794727376
NM_006920.4(SCN1A):c.4413C>G (p.Ile1471Met) rs398123596
NM_006920.4(SCN1A):c.4413C>T (p.Ile1471=) rs398123596
NM_006920.4(SCN1A):c.4496C>T (p.Ala1499Val) rs796053019
NM_006920.4(SCN1A):c.4508T>C (p.Leu1503Ser) rs121918764
NM_006920.4(SCN1A):c.4549-3C>T rs747649993
NM_006920.4(SCN1A):c.4549A>G (p.Asn1517Asp) rs794727398
NM_006920.4(SCN1A):c.4595T>C (p.Phe1532Ser) rs121917992
NM_006920.4(SCN1A):c.4634T>A (p.Val1545Asp) rs398123598
NM_006920.4(SCN1A):c.4690C>T (p.Arg1564Cys) rs121918807
NM_006920.4(SCN1A):c.5048A>G (p.Tyr1683Cys) rs121918777
NM_006920.4(SCN1A):c.5302A>G (p.Asn1768Asp) rs794727416
NM_006920.4(SCN1A):c.5350G>A (p.Glu1784Lys) rs121918813
NM_006920.4(SCN1A):c.5400T>C (p.Val1800=) rs762310676
NM_006920.4(SCN1A):c.5524G>C (p.Asp1842His) rs794727414
NM_006920.4(SCN1A):c.5637A>G (p.Glu1879=) rs1057519211
NM_006920.4(SCN1A):c.5749C>T (p.Arg1917Cys) rs121917956
NM_006920.4(SCN1A):c.5837A>G (p.Glu1946Gly) rs121918802
NM_006920.5(SCN1A):c.3085A>C (p.Arg1029=) rs370793418
NM_006920.5(SCN1A):c.3087G>T (p.Arg1029Ser) rs1373733895
NM_006920.5(SCN1A):c.3314C>A (p.Pro1105Gln) rs1553540184
NM_006920.5(SCN1A):c.3788A>G (p.Tyr1263Cys)
NM_006920.5(SCN1A):c.3854T>C (p.Leu1285Ser)
NM_006920.5(SCN1A):c.4308G>A (p.Val1436=) rs1478635537
NM_006920.5(SCN1A):c.4356T>C (p.Phe1452=) rs794727375
NM_006920.5(SCN1A):c.4940C>T (p.Thr1647Met) rs121917922
NM_006920.5(SCN1A):c.5181A>T (p.Pro1727=) rs1553520290
NM_006920.5(SCN1A):c.5403G>C (p.Trp1801Cys) rs863225037
NM_006920.5(SCN1A):c.5573T>C (p.Phe1858Ser) rs1553520012
NM_006920.5(SCN1A):c.5580T>A (p.Phe1860Leu) rs1354992113

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