ClinVar Miner

List of variants reported as likely benign for Severe myoclonic epilepsy in infancy

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ClinVar version:
Total variants: 116
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HGVS dbSNP
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile) rs121918808
NM_001330723.2(SNX27):c.1122C>T (p.Asp374=) rs1158496817
NM_001330723.2(SNX27):c.1149+10T>C rs368706118
NM_001330723.2(SNX27):c.1156G>C (p.Asp386His) rs138859961
NM_001330723.2(SNX27):c.1170A>G (p.Lys390=) rs916854524
NM_001330723.2(SNX27):c.1221A>G (p.Glu407=) rs1553264889
NM_001330723.2(SNX27):c.1237A>T (p.Met413Leu) rs144336311
NM_001330723.2(SNX27):c.1240-6T>C rs1033947503
NM_001330723.2(SNX27):c.1287T>C (p.Phe429=) rs1230597000
NM_001330723.2(SNX27):c.1323C>T (p.His441=) rs758182367
NM_001330723.2(SNX27):c.1518+10A>G rs745587168
NM_001330723.2(SNX27):c.234G>A (p.Leu78=) rs763585979
NM_001330723.2(SNX27):c.318C>T (p.His106=) rs574875506
NM_001330723.2(SNX27):c.342C>T (p.His114=) rs777998061
NM_001330723.2(SNX27):c.543+6_543+7insA rs778540185
NM_001330723.2(SNX27):c.72G>A (p.Gly24=) rs1293704681
NM_001330723.2(SNX27):c.772A>G (p.Met258Val) rs146222009
NM_001330723.2(SNX27):c.786A>G (p.Leu262=) rs745510590
NM_001330723.2(SNX27):c.816G>A (p.Val272=) rs552371418
NM_001330723.2(SNX27):c.822C>T (p.Asp274=) rs771189015
NM_001330723.2(SNX27):c.942A>G (p.Thr314=) rs1553261783
NM_001330723.2(SNX27):c.967G>A (p.Val323Met) rs61762678
NM_001365536.1(SCN9A):c.*1014G>A rs200393413
NM_001365536.1(SCN9A):c.*124A>G rs201137748
NM_001365536.1(SCN9A):c.*125C>T rs200465050
NM_001365536.1(SCN9A):c.*1434dup rs199505193
NM_001365536.1(SCN9A):c.*1605_*1606del rs200091138
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.*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.*2226T>G rs141310425
NM_001365536.1(SCN9A):c.*2228G>T rs200790957
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.*2662G>A rs149873320
NM_001365536.1(SCN9A):c.*2721C>G rs199595958
NM_001365536.1(SCN9A):c.*3038C>T rs115766730
NM_001365536.1(SCN9A):c.*3102C>T rs182687583
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.*669A>G rs538508619
NM_001365536.1(SCN9A):c.*785C>T rs181229506
NM_001365536.1(SCN9A):c.*920T>A rs201424899
NM_001365536.1(SCN9A):c.*958C>T rs143727895
NM_001365536.1(SCN9A):c.-277C>T rs201445594
NM_001365536.1(SCN9A):c.-283G>C rs191091185
NM_001365536.1(SCN9A):c.-294T>C rs141521157
NM_001365536.1(SCN9A):c.1139T>A (p.Ile380Asn) rs188798505
NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr) rs199986805
NM_001365536.1(SCN9A):c.129T>C (p.Asp43=) rs200826539
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206
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.1793G>A (p.Arg598His) rs201318927
NM_001365536.1(SCN9A):c.1838C>T (p.Pro613Leu) rs200671761
NM_001365536.1(SCN9A):c.1975-3del rs35888674
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.2517+6C>T rs145316463
NM_001365536.1(SCN9A):c.2852T>C (p.Val951Ala) rs201890077
NM_001365536.1(SCN9A):c.2875-5del rs774840081
NM_001365536.1(SCN9A):c.2875-6A>G rs760470229
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.3020G>A (p.Arg1007His) rs188145203
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.3472+14T>C rs201979079
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) rs144941725
NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=) rs202047865
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748
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.4399-14G>T rs112927502
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=) rs187558439
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.5779C>T (p.Leu1927Phe) rs111558968
NM_001365536.1(SCN9A):c.965+13T>C rs772337722
NM_006920.6(SCN1A):c.3970-14C>T rs1241008825
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.*1974G>A rs150875037
NM_198903.2(GABRG2):c.*2095C>G rs138297122
NM_198903.2(GABRG2):c.*261G>A rs148001179
NM_198903.2(GABRG2):c.*343A>G rs41275341
NM_198903.2(GABRG2):c.*385G>A rs185169107
NM_198903.2(GABRG2):c.*441T>C rs188825588
NM_198903.2(GABRG2):c.*794A>G rs73316347
NM_198903.2(GABRG2):c.*797G>T rs118064447
NM_198903.2(GABRG2):c.-154C>T rs3219203
NM_198903.2(GABRG2):c.1292G>A (p.Arg431His) rs528036202
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.837A>G (p.Gln279=) rs78261481
NM_198903.2(GABRG2):c.888C>T (p.Ser296=) rs201672465

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