ClinVar Miner

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

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ClinVar version:
Total variants: 107
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HGVS dbSNP
NM_000816.3(GABRG2):c.*1497C>T rs11956247
NM_000816.3(GABRG2):c.*1518A>G rs567153845
NM_000816.3(GABRG2):c.*1636T>C rs551794496
NM_000816.3(GABRG2):c.*1974G>A rs150875037
NM_000816.3(GABRG2):c.*2095C>G rs138297122
NM_000816.3(GABRG2):c.*261G>A rs148001179
NM_000816.3(GABRG2):c.*343A>G rs41275341
NM_000816.3(GABRG2):c.*385G>A rs185169107
NM_000816.3(GABRG2):c.*441T>C rs188825588
NM_000816.3(GABRG2):c.*794A>G rs73316347
NM_000816.3(GABRG2):c.*797G>T rs118064447
NM_000816.3(GABRG2):c.-154C>T rs3219203
NM_000816.3(GABRG2):c.1148G>A (p.Arg383His) rs528036202
NM_000816.3(GABRG2):c.354G>A (p.Ala118=) rs61735412
NM_000816.3(GABRG2):c.402C>G (p.Val134=) rs562384157
NM_000816.3(GABRG2):c.717A>G (p.Gln239=) rs78261481
NM_000816.3(GABRG2):c.768C>T (p.Ser256=) rs201672465
NM_001165963.1(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715
NM_002977.3(SCN9A):c.*1014G>A rs200393413
NM_002977.3(SCN9A):c.*124A>G rs201137748
NM_002977.3(SCN9A):c.*125C>T rs200465050
NM_002977.3(SCN9A):c.*1434dupT rs199505193
NM_002977.3(SCN9A):c.*1605_*1606delTA rs200091138
NM_002977.3(SCN9A):c.*18A>G rs150401869
NM_002977.3(SCN9A):c.*1960_*1962dupTTG rs202073550
NM_002977.3(SCN9A):c.*204G>A rs111510277
NM_002977.3(SCN9A):c.*2078C>T rs548072061
NM_002977.3(SCN9A):c.*2155G>A rs77565541
NM_002977.3(SCN9A):c.*217G>A rs200625860
NM_002977.3(SCN9A):c.*2191G>A rs201184093
NM_002977.3(SCN9A):c.*2212T>C rs200750861
NM_002977.3(SCN9A):c.*2226T>G rs141310425
NM_002977.3(SCN9A):c.*2228G>T rs200790957
NM_002977.3(SCN9A):c.*2312A>T rs185580193
NM_002977.3(SCN9A):c.*2323G>T rs142172527
NM_002977.3(SCN9A):c.*2344C>T rs200962814
NM_002977.3(SCN9A):c.*235T>C rs140553451
NM_002977.3(SCN9A):c.*2662G>A rs149873320
NM_002977.3(SCN9A):c.*2721C>G rs199595958
NM_002977.3(SCN9A):c.*3038C>T rs115766730
NM_002977.3(SCN9A):c.*3102C>T rs182687583
NM_002977.3(SCN9A):c.*3317A>G rs191667986
NM_002977.3(SCN9A):c.*3426A>T rs186838828
NM_002977.3(SCN9A):c.*377C>G rs115464654
NM_002977.3(SCN9A):c.*669A>G rs538508619
NM_002977.3(SCN9A):c.*785C>T rs181229506
NM_002977.3(SCN9A):c.*920T>A rs201424899
NM_002977.3(SCN9A):c.*958C>T rs143727895
NM_002977.3(SCN9A):c.-277C>T rs201445594
NM_002977.3(SCN9A):c.-283G>C rs191091185
NM_002977.3(SCN9A):c.-294T>C rs141521157
NM_002977.3(SCN9A):c.1139T>A (p.Ile380Asn) rs188798505
NM_002977.3(SCN9A):c.1208T>C (p.Met403Thr) rs199986805
NM_002977.3(SCN9A):c.129T>C (p.Asp43=) rs200826539
NM_002977.3(SCN9A):c.1398C>T (p.Ser466=) rs201531206
NM_002977.3(SCN9A):c.1482G>T (p.Lys494Asn) rs777699798
NM_002977.3(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572
NM_002977.3(SCN9A):c.1603-14dupT rs200430382
NM_002977.3(SCN9A):c.1619G>A (p.Arg540His) rs199748300
NM_002977.3(SCN9A):c.1793G>A (p.Arg598His) rs201318927
NM_002977.3(SCN9A):c.1838C>T (p.Pro613Leu) rs200671761
NM_002977.3(SCN9A):c.1942-3delT rs35888674
NM_002977.3(SCN9A):c.2132T>C (p.Leu711Ser) rs187526567
NM_002977.3(SCN9A):c.2157G>C (p.Trp719Cys) rs202055175
NM_002977.3(SCN9A):c.2159T>A (p.Ile720Lys) rs200945460
NM_002977.3(SCN9A):c.2215A>G (p.Ile739Val) rs182650126
NM_002977.3(SCN9A):c.2359A>G (p.Met787Val) rs149707354
NM_002977.3(SCN9A):c.2404A>G (p.Ser802Gly) rs201890240
NM_002977.3(SCN9A):c.2428G>A (p.Val810Met) rs41268671
NM_002977.3(SCN9A):c.2484+6C>T rs145316463
NM_002977.3(SCN9A):c.2819T>C (p.Val940Ala) rs201890077
NM_002977.3(SCN9A):c.2842-5delT rs774840081
NM_002977.3(SCN9A):c.2842-6A>G rs760470229
NM_002977.3(SCN9A):c.2969A>G (p.Tyr990Cys) rs199692186
NM_002977.3(SCN9A):c.2987G>A (p.Arg996His) rs188145203
NM_002977.3(SCN9A):c.29A>G (p.Gln10Arg) rs267607030
NM_002977.3(SCN9A):c.3310A>G (p.Ser1104Gly) rs201984007
NM_002977.3(SCN9A):c.3329G>A (p.Arg1110Gln) rs74401238
NM_002977.3(SCN9A):c.3335G>A (p.Ser1112Asn) rs141040985
NM_002977.3(SCN9A):c.3439+14T>C rs201979079
NM_002977.3(SCN9A):c.3651T>C (p.Tyr1217=) rs144941725
NM_002977.3(SCN9A):c.3734A>G (p.Asn1245Ser) rs141268327
NM_002977.3(SCN9A):c.3768T>C (p.Asp1256=) rs202047865
NM_002977.3(SCN9A):c.3799C>G (p.Leu1267Val) rs180922748
NM_002977.3(SCN9A):c.4281C>T (p.Val1427=) rs188336294
NM_002977.3(SCN9A):c.4282G>A (p.Val1428Ile) rs149346064
NM_002977.3(SCN9A):c.4366-14G>T rs112927502
NM_002977.3(SCN9A):c.4462C>A (p.Arg1488=) rs187558439
NM_002977.3(SCN9A):c.554G>A (p.Arg185His) rs73969684
NM_002977.3(SCN9A):c.5678G>A (p.Arg1893His) rs79805025
NM_002977.3(SCN9A):c.5746C>T (p.Leu1916Phe) rs111558968
NM_002977.3(SCN9A):c.965+13T>C rs772337722
NM_030918.5(SNX27):c.1122C>T (p.Asp374=) rs1158496817
NM_030918.5(SNX27):c.1149+10T>C rs368706118
NM_030918.5(SNX27):c.1156G>C (p.Asp386His) rs138859961
NM_030918.5(SNX27):c.1170A>G (p.Lys390=) rs916854524
NM_030918.5(SNX27):c.1221A>G (p.Glu407=) rs1553264889
NM_030918.5(SNX27):c.1287T>C (p.Phe429=) rs1230597000
NM_030918.5(SNX27):c.1365C>T (p.Ala455=) rs555284794
NM_030918.5(SNX27):c.234G>A (p.Leu78=) rs763585979
NM_030918.5(SNX27):c.342C>T (p.His114=) rs777998061
NM_030918.5(SNX27):c.772A>G (p.Met258Val) rs146222009
NM_030918.5(SNX27):c.786A>G (p.Leu262=) rs745510590
NM_030918.5(SNX27):c.816G>A (p.Val272=) rs552371418
NM_030918.5(SNX27):c.822C>T (p.Asp274=) rs771189015
NM_030918.5(SNX27):c.942A>G (p.Thr314=) rs1553261783
NM_030918.5(SNX27):c.967G>A (p.Val323Met) rs61762678

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