ClinVar Miner

List of variants reported as uncertain significance for Dravet syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 174
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_151122490)_(151585008_?)dup
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.1343T>C (p.Ile448Thr) rs755962326
NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys) rs769582667
NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu)
NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His) rs184524479
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn) rs1057518703
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790
NM_001165963.4(SCN1A):c.1803C>T (p.Asn601=) rs139403702
NM_001165963.4(SCN1A):c.2044G>A (p.Gly682Arg)
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly)
NM_001165963.4(SCN1A):c.2710T>G (p.Phe904Val)
NM_001165963.4(SCN1A):c.3098T>C (p.Phe1033Ser) rs796052992
NM_001165963.4(SCN1A):c.3451T>C (p.Ser1151Pro)
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458
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.379C>G (p.His127Asp) rs148442069
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.4324G>T (p.Val1442Phe)
NM_001165963.4(SCN1A):c.4339-21C>G
NM_001165963.4(SCN1A):c.4409G>A (p.Gly1470Glu) rs1573984236
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile) rs780360360
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.5217C>T (p.Pro1739=) rs149315236
NM_001165963.4(SCN1A):c.5351T>A (p.Val1784Asp) rs1057518671
NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys) rs121918813
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.5870A>G (p.Glu1957Gly) rs121918802
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly) rs771936735
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308
NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn) rs371243629
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.1238T>C (p.Ile413Thr) rs200689195
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys) rs200415928
NM_001365536.1(SCN9A):c.1280T>C (p.Leu427Ser) rs192406412
NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu) rs201354321
NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val) rs121908920
NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His) rs200374987
NM_001365536.1(SCN9A):c.2351C>G (p.Thr784Ser) rs200624920
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.3538A>G (p.Asn1180Asp) rs750269576
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001365536.1(SCN9A):c.4368C>G (p.Ile1456Met) rs1362318488
NM_001365536.1(SCN9A):c.4434GAA[1] (p.Lys1480del) rs886055050
NM_001365536.1(SCN9A):c.4482A>G (p.Gln1494=) rs1558945594
NM_001365536.1(SCN9A):c.4503+8_4503+9insT rs767624579
NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile) rs200470541
NM_001365536.1(SCN9A):c.553C>T (p.Arg185Cys) rs202083986
NM_001365536.1(SCN9A):c.5820C>G (p.Asn1940Lys) rs371454107
NM_001365536.1(SCN9A):c.5948G>T (p.Ser1983Ile) rs770802841
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908
NM_006920.6(SCN1A):c.1898C>T (p.Ala633Val) rs1574215846
NM_006920.6(SCN1A):c.2010+2T>C rs1574214843
NM_006920.6(SCN1A):c.2144-2A>T rs1436792531
NM_006920.6(SCN1A):c.2653G>A (p.Val885Ile) rs745378416
NM_006920.6(SCN1A):c.404T>C (p.Met135Thr) rs1574290850
NM_006920.6(SCN1A):c.602+1G>A
NM_006920.6(SCN1A):c.635T>C (p.Val212Ala) rs551068385
NM_198903.2(GABRG2):c.-4del rs771282908
NM_198903.2(GABRG2):c.-4dup rs771282908

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.