ClinVar Miner

List of variants reported as uncertain significance for Dravet syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 162
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HGVS dbSNP
NM_001032221.6(STXBP1):c.423A>T (p.Glu141Asp)
NM_001127644.2(GABRA1):c.1268C>T (p.Ser423Leu)
NM_001127644.2(GABRA1):c.80G>A (p.Gly27Glu) rs866861998
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter) rs769743354
NM_001330723.2(SNX27):c.1046C>A (p.Ala349Asp)
NM_001330723.2(SNX27):c.1118A>G (p.Asn373Ser)
NM_001330723.2(SNX27):c.1147C>G (p.Gln383Glu)
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.1237A>G (p.Met413Val) rs144336311
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)
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)
NM_001330723.2(SNX27):c.1427G>T (p.Arg476Leu) rs200106732
NM_001330723.2(SNX27):c.1465G>A (p.Glu489Lys) rs1400115897
NM_001330723.2(SNX27):c.1493G>A (p.Arg498Gln) rs1558078709
NM_001330723.2(SNX27):c.1517A>G (p.Tyr506Cys) rs1553266278
NM_001330723.2(SNX27):c.238C>G (p.His80Asp)
NM_001330723.2(SNX27):c.259G>T (p.Gly87Trp)
NM_001330723.2(SNX27):c.388T>A (p.Leu130Met)
NM_001330723.2(SNX27):c.41C>T (p.Pro14Leu) rs965328686
NM_001330723.2(SNX27):c.422A>T (p.Asp141Val)
NM_001330723.2(SNX27):c.456A>G (p.Gln152=) rs774725804
NM_001330723.2(SNX27):c.543+6T>C
NM_001330723.2(SNX27):c.575T>A (p.Leu192Gln) rs1208840156
NM_001330723.2(SNX27):c.595G>C (p.Glu199Gln)
NM_001330723.2(SNX27):c.60_62CGG[6] (p.Gly24_Gly25dup) rs567208173
NM_001330723.2(SNX27):c.676T>A (p.Ser226Thr) rs748735835
NM_001330723.2(SNX27):c.69C>T (p.Gly23=)
NM_001330723.2(SNX27):c.73G>T (p.Gly25Trp) rs1558028277
NM_001330723.2(SNX27):c.796G>A (p.Asp266Asn) rs779687444
NM_001330723.2(SNX27):c.848A>G (p.Asp283Gly) rs776237861
NM_001330723.2(SNX27):c.857C>T (p.Thr286Met) rs540042464
NM_001330723.2(SNX27):c.862A>G (p.Thr288Ala)
NM_001330723.2(SNX27):c.883A>G (p.Ser295Gly) rs754578785
NM_001330723.2(SNX27):c.908C>T (p.Ala303Val)
NM_001330723.2(SNX27):c.913G>A (p.Ala305Thr) rs778236794
NM_001330723.2(SNX27):c.938C>T (p.Thr313Met) rs140922236
NM_001365536.1(SCN9A):c.1014T>G (p.Asp338Glu) rs886055056
NM_001365536.1(SCN9A):c.1094A>G (p.Asn365Ser) rs886055055
NM_001365536.1(SCN9A):c.1207A>C (p.Met403Leu) rs746956041
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.1347T>C (p.Ser449=) rs201990547
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=) rs200682458
NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu) rs201354321
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=) rs200876333
NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val) rs121908920
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) rs200014315
NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His) rs200374987
NM_001365536.1(SCN9A):c.213G>A (p.Val71=) rs200240989
NM_001365536.1(SCN9A):c.2351C>G (p.Thr784Ser) rs200624920
NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=) rs200185692
NM_001365536.1(SCN9A):c.274A>T (p.Asn92Tyr) rs747265095
NM_001365536.1(SCN9A):c.2916T>C (p.Ser972=) rs886055054
NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu) rs199824489
NM_001365536.1(SCN9A):c.3265G>A (p.Val1089Met) rs886055053
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.3754A>G (p.Thr1252Ala) rs886055052
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr) rs202235611
NM_001365536.1(SCN9A):c.4368C>G (p.Ile1456Met) rs1362318488
NM_001365536.1(SCN9A):c.4434_4436GAA[1] (p.Lys1480del) rs886055050
NM_001365536.1(SCN9A):c.4482A>G (p.Gln1494=) rs1558945594
NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile) rs200470541
NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=) rs201875421
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_001365536.1(SCN9A):c.685C>A (p.Pro229Thr) rs755653914
NM_002977.3(SCN9A):c.*1357C>T rs200338267
NM_002977.3(SCN9A):c.*1605T>C rs199848927
NM_002977.3(SCN9A):c.*165_*167dup rs886055049
NM_002977.3(SCN9A):c.*1770A>C rs200353065
NM_002977.3(SCN9A):c.*2222T>C rs199958892
NM_002977.3(SCN9A):c.*226A>C rs886055048
NM_002977.3(SCN9A):c.*2744del rs763459885
NM_002977.3(SCN9A):c.*2860C>T rs200963393
NM_002977.3(SCN9A):c.*2928G>A rs199559478
NM_002977.3(SCN9A):c.*2986T>G rs201730339
NM_002977.3(SCN9A):c.*3282A>C rs139483482
NM_002977.3(SCN9A):c.*491del rs886055047
NM_002977.3(SCN9A):c.*948G>A rs201415802
NM_002977.3(SCN9A):c.-126G>C rs200099565
NM_002977.3(SCN9A):c.-324C>T rs201905758
NM_002977.3(SCN9A):c.-339G>C rs886055057
NM_002977.3(SCN9A):c.3892-13T>C rs886055051
NM_002977.3(SCN9A):c.4470+8_4470+9insT rs767624579
NM_003165.4(STXBP1):c.1680C>T (p.Asn560=) rs201809337
NM_003165.4(STXBP1):c.533C>T (p.Thr178Ile) rs1564350546
NM_003165.4(STXBP1):c.714C>A (p.Asp238Glu) rs587784456
NM_006920.6(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_006920.6(SCN1A):c.1343T>C (p.Ile448Thr) rs755962326
NM_006920.6(SCN1A):c.136G>A (p.Glu46Lys) rs769582667
NM_006920.6(SCN1A):c.1604G>A (p.Arg535His) rs184524479
NM_006920.6(SCN1A):c.1709G>A (p.Ser570Asn) rs1057518703
NM_006920.6(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790
NM_006920.6(SCN1A):c.1803C>T (p.Asn601=) rs139403702
NM_006920.6(SCN1A):c.1898C>T (p.Ala633Val)
NM_006920.6(SCN1A):c.2010+2T>C
NM_006920.6(SCN1A):c.2144-2A>T
NM_006920.6(SCN1A):c.2653G>A (p.Val885Ile)
NM_006920.6(SCN1A):c.3065T>C (p.Phe1022Ser) rs796052992
NM_006920.6(SCN1A):c.3448G>A (p.Ala1150Thr) rs201079458
NM_006920.6(SCN1A):c.3479C>T (p.Pro1160Leu) rs1559152754
NM_006920.6(SCN1A):c.3488C>G (p.Thr1163Ser) rs121918799
NM_006920.6(SCN1A):c.3681A>C (p.Glu1227Asp) rs121917973
NM_006920.6(SCN1A):c.3716C>T (p.Thr1239Met) rs140731963
NM_006920.6(SCN1A):c.379C>G (p.His127Asp) rs148442069
NM_006920.6(SCN1A):c.3891A>T (p.Glu1297Asp) rs121917910
NM_006920.6(SCN1A):c.4523C>T (p.Pro1508Leu) rs372425457
NM_006920.6(SCN1A):c.4579G>A (p.Val1527Ile) rs780360360
NM_006920.6(SCN1A):c.4822A>G (p.Met1608Val) rs373967247
NM_006920.6(SCN1A):c.5033T>C (p.Met1678Thr) rs1559104676
NM_006920.6(SCN1A):c.5184C>T (p.Pro1728=) rs149315236
NM_006920.6(SCN1A):c.5318T>A (p.Val1773Asp) rs1057518671
NM_006920.6(SCN1A):c.5350G>A (p.Glu1784Lys) rs121918813
NM_006920.6(SCN1A):c.5468C>T (p.Ala1823Val) rs780809852
NM_006920.6(SCN1A):c.5648T>C (p.Met1883Thr) rs562208324
NM_006920.6(SCN1A):c.5837A>G (p.Glu1946Gly) rs121918802
NM_006920.6(SCN1A):c.5918C>A (p.Pro1973His) rs146733308
NM_006920.6(SCN1A):c.5955A>C (p.Lys1985Asn) rs371243629
NM_006920.6(SCN1A):c.602+1G>A rs794726827
NM_006920.6(SCN1A):c.635T>C (p.Val212Ala)
NM_198903.2(GABRG2):c.*1320G>A rs886060385
NM_198903.2(GABRG2):c.*1392A>T rs886060386
NM_198903.2(GABRG2):c.*1427C>T rs375013278
NM_198903.2(GABRG2):c.*1468A>G rs372041761
NM_198903.2(GABRG2):c.*1763A>T rs886060387
NM_198903.2(GABRG2):c.*1889C>A rs886060388
NM_198903.2(GABRG2):c.*194G>A rs758832535
NM_198903.2(GABRG2):c.*1981G>C rs886060389
NM_198903.2(GABRG2):c.*247T>C rs371389067
NM_198903.2(GABRG2):c.*250A>C rs886060384
NM_198903.2(GABRG2):c.*32T>C rs749257839
NM_198903.2(GABRG2):c.*422C>T rs752382943
NM_198903.2(GABRG2):c.-104T>G rs886060380
NM_198903.2(GABRG2):c.-114T>C rs886060379
NM_198903.2(GABRG2):c.-179T>A rs886060378
NM_198903.2(GABRG2):c.-217C>G rs748771306
NM_198903.2(GABRG2):c.-241A>C rs886060377
NM_198903.2(GABRG2):c.-250C>T rs886060376
NM_198903.2(GABRG2):c.-268C>A rs886060375
NM_198903.2(GABRG2):c.-334C>T rs886060374
NM_198903.2(GABRG2):c.-4del rs771282908
NM_198903.2(GABRG2):c.-4dup rs771282908
NM_198903.2(GABRG2):c.1042+6A>G rs375294947
NM_198903.2(GABRG2):c.107+12C>T rs369466385
NM_198903.2(GABRG2):c.135C>T (p.Asp45=) rs375308385
NM_198903.2(GABRG2):c.1454G>A (p.Arg485His) rs587780341
NM_198903.2(GABRG2):c.1509G>A (p.Leu503=) rs765904792
NM_198903.2(GABRG2):c.1545G>A (p.Leu515=) rs886060383
NM_198903.2(GABRG2):c.243T>A (p.Leu81=) rs143295869
NM_198903.2(GABRG2):c.24C>A (p.Ser8Arg) rs183259247
NM_198903.2(GABRG2):c.889+10A>G rs765703079

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