ClinVar Miner

List of variants studied for Dravet syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 209
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HGVS dbSNP
NM_001365536.1(SCN9A):c.*1013C>T rs16851754
NM_001365536.1(SCN9A):c.*1014G>A rs200393413
NM_001365536.1(SCN9A):c.*1118_*1119insCA rs140616949
NM_001365536.1(SCN9A):c.*1184T>G rs11902920
NM_001365536.1(SCN9A):c.*124A>G rs201137748
NM_001365536.1(SCN9A):c.*125C>T rs200465050
NM_001365536.1(SCN9A):c.*129C>T rs16851759
NM_001365536.1(SCN9A):c.*1357C>T rs200338267
NM_001365536.1(SCN9A):c.*1434dup rs199505193
NM_001365536.1(SCN9A):c.*1492C>G rs73017542
NM_001365536.1(SCN9A):c.*1605T>C rs199848927
NM_001365536.1(SCN9A):c.*1605_*1606del rs200091138
NM_001365536.1(SCN9A):c.*1605del rs148459420
NM_001365536.1(SCN9A):c.*165_*167dup rs886055049
NM_001365536.1(SCN9A):c.*1660G>A rs16851753
NM_001365536.1(SCN9A):c.*1770A>C rs200353065
NM_001365536.1(SCN9A):c.*1774G>A rs114843828
NM_001365536.1(SCN9A):c.*1796C>T rs16851751
NM_001365536.1(SCN9A):c.*18A>G rs150401869
NM_001365536.1(SCN9A):c.*1960_*1962dup rs202073550
NM_001365536.1(SCN9A):c.*204G>A rs111510277
NM_001365536.1(SCN9A):c.*2078C>T rs548072061
NM_001365536.1(SCN9A):c.*2136C>G rs77050817
NM_001365536.1(SCN9A):c.*2146G>C rs1062844
NM_001365536.1(SCN9A):c.*2154C>G rs17804037
NM_001365536.1(SCN9A):c.*2155G>A rs77565541
NM_001365536.1(SCN9A):c.*217G>A rs200625860
NM_001365536.1(SCN9A):c.*2191G>A rs201184093
NM_001365536.1(SCN9A):c.*2212T>C rs200750861
NM_001365536.1(SCN9A):c.*2222T>C rs199958892
NM_001365536.1(SCN9A):c.*2226T>G rs141310425
NM_001365536.1(SCN9A):c.*2228G>T rs200790957
NM_001365536.1(SCN9A):c.*226A>C rs886055048
NM_001365536.1(SCN9A):c.*2297A>T rs75345520
NM_001365536.1(SCN9A):c.*2312A>T rs185580193
NM_001365536.1(SCN9A):c.*2323G>T rs142172527
NM_001365536.1(SCN9A):c.*2344C>T rs200962814
NM_001365536.1(SCN9A):c.*235T>C rs140553451
NM_001365536.1(SCN9A):c.*237C>G rs16851755
NM_001365536.1(SCN9A):c.*244_*247dup rs143461219
NM_001365536.1(SCN9A):c.*2540C>T rs58249489
NM_001365536.1(SCN9A):c.*2616_*2626del rs145255931
NM_001365536.1(SCN9A):c.*2640G>A rs13396526
NM_001365536.1(SCN9A):c.*2662G>A rs149873320
NM_001365536.1(SCN9A):c.*2721C>G rs199595958
NM_001365536.1(SCN9A):c.*2744del rs763459885
NM_001365536.1(SCN9A):c.*2854T>C rs73017538
NM_001365536.1(SCN9A):c.*2860C>T rs200963393
NM_001365536.1(SCN9A):c.*2928G>A rs199559478
NM_001365536.1(SCN9A):c.*2986T>G rs201730339
NM_001365536.1(SCN9A):c.*3038C>T rs115766730
NM_001365536.1(SCN9A):c.*3102C>T rs182687583
NM_001365536.1(SCN9A):c.*3282A>C rs139483482
NM_001365536.1(SCN9A):c.*3317A>G rs191667986
NM_001365536.1(SCN9A):c.*3426A>T rs186838828
NM_001365536.1(SCN9A):c.*377C>G rs115464654
NM_001365536.1(SCN9A):c.*416dup rs3834910
NM_001365536.1(SCN9A):c.*491del rs886055047
NM_001365536.1(SCN9A):c.*529_*530del rs140024416
NM_001365536.1(SCN9A):c.*669A>G rs538508619
NM_001365536.1(SCN9A):c.*771_*772dup rs144515054
NM_001365536.1(SCN9A):c.*785C>T rs181229506
NM_001365536.1(SCN9A):c.*798dup rs564394161
NM_001365536.1(SCN9A):c.*920T>A rs201424899
NM_001365536.1(SCN9A):c.*948G>A rs201415802
NM_001365536.1(SCN9A):c.*958C>T rs143727895
NM_001365536.1(SCN9A):c.-126G>C rs200099565
NM_001365536.1(SCN9A):c.-277C>T rs201445594
NM_001365536.1(SCN9A):c.-283G>C rs191091185
NM_001365536.1(SCN9A):c.-290T>C rs148362057
NM_001365536.1(SCN9A):c.-294T>C rs141521157
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.1119T>C (p.Ala373=) rs13414203
NM_001365536.1(SCN9A):c.1139T>A (p.Ile380Asn) rs188798505
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962
NM_001365536.1(SCN9A):c.1207A>C (p.Met403Leu) rs746956041
NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr) rs199986805
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673
NM_001365536.1(SCN9A):c.129T>C (p.Asp43=) rs200826539
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=) rs201990547
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=) rs200682458
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607
NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn) rs777699798
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572
NM_001365536.1(SCN9A):c.1603-21dup rs200430382
NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His) rs199748300
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=) rs200876333
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901
NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His) rs201318927
NM_001365536.1(SCN9A):c.1838C>T (p.Pro613Leu) rs200671761
NM_001365536.1(SCN9A):c.1975-12dup rs35888674
NM_001365536.1(SCN9A):c.1975-3del rs35888674
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) rs200014315
NM_001365536.1(SCN9A):c.2105-14C>T rs6432893
NM_001365536.1(SCN9A):c.2105-15G>A rs4525717
NM_001365536.1(SCN9A):c.213G>A (p.Val71=) rs200240989
NM_001365536.1(SCN9A):c.2165T>C (p.Leu722Ser) rs187526567
NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys) rs202055175
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly) rs201890240
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met) rs41268671
NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=) rs200185692
NM_001365536.1(SCN9A):c.2517+6C>T rs145316463
NM_001365536.1(SCN9A):c.274A>T (p.Asn92Tyr) rs747265095
NM_001365536.1(SCN9A):c.2852T>C (p.Val951Ala) rs201890077
NM_001365536.1(SCN9A):c.2874+13del rs200434162
NM_001365536.1(SCN9A):c.2875-5del rs774840081
NM_001365536.1(SCN9A):c.2875-6A>G rs760470229
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.29A>G (p.Gln10Arg) rs267607030
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876
NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His) rs188145203
NM_001365536.1(SCN9A):c.3265G>A (p.Val1089Met) rs886055053
NM_001365536.1(SCN9A):c.3343A>G (p.Ser1115Gly) rs201984007
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) rs74401238
NM_001365536.1(SCN9A):c.3368G>A (p.Ser1123Asn) rs141040985
NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr) rs750839038
NM_001365536.1(SCN9A):c.3472+14T>C rs201979079
NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr) rs370455223
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=) rs77144869
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) rs144941725
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.3801T>C (p.Asp1267=) rs202047865
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218
NM_001365536.1(SCN9A):c.3802-8T>C rs76550960
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748
NM_001365536.1(SCN9A):c.3925-13T>C rs886055051
NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr) rs202235611
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile) rs149346064
NM_001365536.1(SCN9A):c.4399-10_4399-7del rs77944059
NM_001365536.1(SCN9A):c.4399-14G>T rs112927502
NM_001365536.1(SCN9A):c.4434_4436GAA[1] (p.Lys1480del) rs886055050
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=) rs187558439
NM_001365536.1(SCN9A):c.4503+8_4503+9insT rs767624579
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258
NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=) rs201875421
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His) rs79805025
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) rs3750904
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968
NM_001365536.1(SCN9A):c.685C>A (p.Pro229Thr) rs755653914
NM_001365536.1(SCN9A):c.688+13T>C rs74449889
NM_001365536.1(SCN9A):c.965+13T>C rs772337722
NM_002977.3(SCN9A):c.-307G>T rs1881440
NM_002977.3(SCN9A):c.-324C>T rs201905758
NM_002977.3(SCN9A):c.-339G>C rs886055057
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.*1497C>T rs11956247
NM_198903.2(GABRG2):c.*1518A>G rs567153845
NM_198903.2(GABRG2):c.*1636T>C rs551794496
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.*1974G>A rs150875037
NM_198903.2(GABRG2):c.*1981G>C rs886060389
NM_198903.2(GABRG2):c.*2095C>G rs138297122
NM_198903.2(GABRG2):c.*2120_*2121del rs34705786
NM_198903.2(GABRG2):c.*247T>C rs371389067
NM_198903.2(GABRG2):c.*250A>C rs886060384
NM_198903.2(GABRG2):c.*261G>A rs148001179
NM_198903.2(GABRG2):c.*32T>C rs749257839
NM_198903.2(GABRG2):c.*343A>G rs41275341
NM_198903.2(GABRG2):c.*385G>A rs185169107
NM_198903.2(GABRG2):c.*422C>T rs752382943
NM_198903.2(GABRG2):c.*441T>C rs188825588
NM_198903.2(GABRG2):c.*609C>T rs418210
NM_198903.2(GABRG2):c.*661T>A rs424740
NM_198903.2(GABRG2):c.*794A>G rs73316347
NM_198903.2(GABRG2):c.*797G>T rs118064447
NM_198903.2(GABRG2):c.-104T>G rs886060380
NM_198903.2(GABRG2):c.-114T>C rs886060379
NM_198903.2(GABRG2):c.-154C>T rs3219203
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.1292G>A (p.Arg431His) rs528036202
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.315C>T (p.Asn105=) rs11135176
NM_198903.2(GABRG2):c.354G>A (p.Ala118=) rs61735412
NM_198903.2(GABRG2):c.402C>G (p.Val134=) rs562384157
NM_198903.2(GABRG2):c.588C>T (p.Asn196=) rs211037
NM_198903.2(GABRG2):c.837A>G (p.Gln279=) rs78261481
NM_198903.2(GABRG2):c.888C>T (p.Ser296=) rs201672465
NM_198903.2(GABRG2):c.889+10A>G rs765703079

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