ClinVar Miner

List of variants reported as uncertain significance for Severe myoclonic epilepsy in infancy

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ClinVar version:
Total variants: 151
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HGVS dbSNP
NC_000001.10:g.(?_151122490)_(151585008_?)dup
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu)
NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His) rs184524479
NM_001165963.4(SCN1A):c.1898C>T (p.Ala633Val) rs1574215846
NM_001165963.4(SCN1A):c.2012T>C (p.Val671Ala) rs1574214843
NM_001165963.4(SCN1A):c.2044G>A (p.Gly682Arg)
NM_001165963.4(SCN1A):c.2177-2A>T rs1436792531
NM_001165963.4(SCN1A):c.2201G>A (p.Cys734Tyr)
NM_001165963.4(SCN1A):c.2552A>G (p.Asn851Ser) rs561912072
NM_001165963.4(SCN1A):c.2686G>A (p.Val896Ile) rs745378416
NM_001165963.4(SCN1A):c.2710T>G (p.Phe904Val)
NM_001165963.4(SCN1A):c.3451T>C (p.Ser1151Pro)
NM_001165963.4(SCN1A):c.3512C>T (p.Pro1171Leu) rs1559152754
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963
NM_001165963.4(SCN1A):c.3844A>G (p.Asn1282Asp)
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910
NM_001165963.4(SCN1A):c.3953T>C (p.Leu1318Pro)
NM_001165963.4(SCN1A):c.4007T>G (p.Val1336Gly)
NM_001165963.4(SCN1A):c.404T>C (p.Met135Thr) rs1574290850
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)
NM_001165963.4(SCN1A):c.4339-21C>G
NM_001165963.4(SCN1A):c.4396T>C (p.Phe1466Leu)
NM_001165963.4(SCN1A):c.4409G>A (p.Gly1470Glu) rs1573984236
NM_001165963.4(SCN1A):c.4427A>C (p.Asn1476Thr)
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457
NM_001165963.4(SCN1A):c.4570C>T (p.Pro1524Ser)
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser) rs121917992
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
NM_001165963.4(SCN1A):c.5351T>A (p.Val1784Asp) rs1057518671
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val) rs780809852
NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr) rs562208324
NM_001165963.4(SCN1A):c.5783G>A (p.Arg1928His) rs1477444505
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly) rs771936735
NM_001165963.4(SCN1A):c.635T>C (p.Val212Ala) rs551068385
NM_001330723.2(SNX27):c.1024T>G (p.Tyr342Asp)
NM_001330723.2(SNX27):c.1025A>G (p.Tyr342Cys)
NM_001330723.2(SNX27):c.1046C>A (p.Ala349Asp) rs771457853
NM_001330723.2(SNX27):c.1067C>A (p.Thr356Asn)
NM_001330723.2(SNX27):c.106_120del (p.Gly36_Gly40del)
NM_001330723.2(SNX27):c.110G>A (p.Gly37Glu)
NM_001330723.2(SNX27):c.1118A>G (p.Asn373Ser) rs149636067
NM_001330723.2(SNX27):c.1124T>G (p.Leu375Arg)
NM_001330723.2(SNX27):c.1147C>G (p.Gln383Glu) rs758891209
NM_001330723.2(SNX27):c.1150-3T>C
NM_001330723.2(SNX27):c.1181A>C (p.Lys394Thr) rs1558073082
NM_001330723.2(SNX27):c.118G>A (p.Gly40Ser) rs1354158738
NM_001330723.2(SNX27):c.120C>T (p.Gly40=)
NM_001330723.2(SNX27):c.1214T>C (p.Leu405Pro)
NM_001330723.2(SNX27):c.1235T>A (p.Val412Asp)
NM_001330723.2(SNX27):c.1237A>G (p.Met413Val) rs144336311
NM_001330723.2(SNX27):c.1240-3T>A
NM_001330723.2(SNX27):c.1240-3T>C
NM_001330723.2(SNX27):c.1246A>G (p.Asn416Asp) rs1388451146
NM_001330723.2(SNX27):c.1258A>T (p.Thr420Ser) rs1399483139
NM_001330723.2(SNX27):c.1274A>G (p.Asn425Ser) rs768030688
NM_001330723.2(SNX27):c.1278A>T (p.Glu426Asp)
NM_001330723.2(SNX27):c.1283T>A (p.Ile428Asn)
NM_001330723.2(SNX27):c.1289C>T (p.Pro430Leu)
NM_001330723.2(SNX27):c.130G>C (p.Val44Leu)
NM_001330723.2(SNX27):c.1310G>C (p.Arg437Thr) rs1558078260
NM_001330723.2(SNX27):c.1324G>A (p.Val442Ile) rs149937418
NM_001330723.2(SNX27):c.1346C>T (p.Thr449Met) rs754928412
NM_001330723.2(SNX27):c.1348C>T (p.His450Tyr)
NM_001330723.2(SNX27):c.1427G>T (p.Arg476Leu) rs200106732
NM_001330723.2(SNX27):c.1438G>C (p.Asp480His)
NM_001330723.2(SNX27):c.1457T>C (p.Phe486Ser)
NM_001330723.2(SNX27):c.1465G>A (p.Glu489Lys) rs1400115897
NM_001330723.2(SNX27):c.1475G>A (p.Arg492Gln)
NM_001330723.2(SNX27):c.1493G>A (p.Arg498Gln) rs1558078709
NM_001330723.2(SNX27):c.1495T>C (p.Trp499Arg)
NM_001330723.2(SNX27):c.1517A>G (p.Tyr506Cys) rs1553266278
NM_001330723.2(SNX27):c.1523A>G (p.Asn508Ser)
NM_001330723.2(SNX27):c.1571G>A (p.Arg524Lys)
NM_001330723.2(SNX27):c.1578+119_1578+122del
NM_001330723.2(SNX27):c.15C>G (p.Asp5Glu)
NM_001330723.2(SNX27):c.160G>A (p.Gly54Ser)
NM_001330723.2(SNX27):c.17G>A (p.Gly6Glu)
NM_001330723.2(SNX27):c.17G>T (p.Gly6Val)
NM_001330723.2(SNX27):c.19G>A (p.Glu7Lys)
NM_001330723.2(SNX27):c.211A>G (p.Asn71Asp)
NM_001330723.2(SNX27):c.213C>G (p.Asn71Lys)
NM_001330723.2(SNX27):c.238C>G (p.His80Asp) rs1571741601
NM_001330723.2(SNX27):c.259G>T (p.Gly87Trp) rs750944911
NM_001330723.2(SNX27):c.260G>C (p.Gly87Ala)
NM_001330723.2(SNX27):c.261G>T (p.Gly87=)
NM_001330723.2(SNX27):c.263G>C (p.Gly88Ala)
NM_001330723.2(SNX27):c.264G>T (p.Gly88=)
NM_001330723.2(SNX27):c.275G>T (p.Arg92Leu)
NM_001330723.2(SNX27):c.292G>A (p.Gly98Arg)
NM_001330723.2(SNX27):c.317A>C (p.His106Pro)
NM_001330723.2(SNX27):c.323A>G (p.Asn108Ser)
NM_001330723.2(SNX27):c.388T>A (p.Leu130Met) rs767929616
NM_001330723.2(SNX27):c.40C>A (p.Pro14Thr)
NM_001330723.2(SNX27):c.40C>T (p.Pro14Ser)
NM_001330723.2(SNX27):c.41C>T (p.Pro14Leu) rs965328686
NM_001330723.2(SNX27):c.422A>T (p.Asp141Val) rs1300183081
NM_001330723.2(SNX27):c.456A>G (p.Gln152=) rs774725804
NM_001330723.2(SNX27):c.493A>C (p.Ile165Leu)
NM_001330723.2(SNX27):c.49A>C (p.Asn17His)
NM_001330723.2(SNX27):c.527A>G (p.Asn176Ser)
NM_001330723.2(SNX27):c.53G>C (p.Gly18Ala)
NM_001330723.2(SNX27):c.543+6T>C rs1571793465
NM_001330723.2(SNX27):c.575T>A (p.Leu192Gln) rs1208840156
NM_001330723.2(SNX27):c.595G>C (p.Glu199Gln) rs1176950317
NM_001330723.2(SNX27):c.60CGG[6] (p.Gly24_Gly25dup) rs567208173
NM_001330723.2(SNX27):c.632T>A (p.Phe211Tyr)
NM_001330723.2(SNX27):c.656T>C (p.Leu219Pro)
NM_001330723.2(SNX27):c.676T>A (p.Ser226Thr) rs748735835
NM_001330723.2(SNX27):c.69C>T (p.Gly23=) rs752312603
NM_001330723.2(SNX27):c.707G>A (p.Arg236His)
NM_001330723.2(SNX27):c.70G>T (p.Gly24Trp)
NM_001330723.2(SNX27):c.731A>G (p.Glu244Gly)
NM_001330723.2(SNX27):c.73G>T (p.Gly25Trp) rs1558028277
NM_001330723.2(SNX27):c.752T>G (p.Val251Gly)
NM_001330723.2(SNX27):c.755T>C (p.Ile252Thr)
NM_001330723.2(SNX27):c.796G>A (p.Asp266Asn) rs779687444
NM_001330723.2(SNX27):c.820G>A (p.Asp274Asn)
NM_001330723.2(SNX27):c.823G>A (p.Val275Ile)
NM_001330723.2(SNX27):c.828G>C (p.Glu276Asp)
NM_001330723.2(SNX27):c.848A>G (p.Asp283Gly) rs776237861
NM_001330723.2(SNX27):c.857C>A (p.Thr286Lys)
NM_001330723.2(SNX27):c.857C>T (p.Thr286Met) rs540042464
NM_001330723.2(SNX27):c.862A>G (p.Thr288Ala) rs1198073102
NM_001330723.2(SNX27):c.883A>G (p.Ser295Gly) rs754578785
NM_001330723.2(SNX27):c.908C>T (p.Ala303Val) rs751034029
NM_001330723.2(SNX27):c.913G>A (p.Ala305Thr) rs778236794
NM_001330723.2(SNX27):c.913G>T (p.Ala305Ser)
NM_001330723.2(SNX27):c.914C>T (p.Ala305Val)
NM_001330723.2(SNX27):c.921G>C (p.Lys307Asn)
NM_001330723.2(SNX27):c.92C>T (p.Ala31Val)
NM_001330723.2(SNX27):c.938C>T (p.Thr313Met) rs140922236
NM_001330723.2(SNX27):c.980C>T (p.Ser327Phe)
NM_001365536.1(SCN9A):c.*165_*167dup rs886055049
NM_001365536.1(SCN9A):c.*2744del rs763459885
NM_001365536.1(SCN9A):c.*491del rs886055047
NM_001365536.1(SCN9A):c.1079A>G (p.Gln360Arg)
NM_001365536.1(SCN9A):c.1114C>T (p.Arg372Cys)
NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr) rs750839038
NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr) rs370455223
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001365536.1(SCN9A):c.4434GAA[1] (p.Lys1480del) rs886055050
NM_001365536.1(SCN9A):c.4503+8_4503+9insT rs767624579
NM_006920.6(SCN1A):c.602+1G>A
NM_198904.4(GABRG2):c.-4del rs771282908
NM_198904.4(GABRG2):c.-4dup rs771282908

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