ClinVar Miner

List of variants reported as likely benign for Dravet syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
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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.1017C>T (p.His339=)
NM_001330723.2(SNX27):c.1092A>G (p.Thr364=)
NM_001330723.2(SNX27):c.1107C>T (p.Leu369=)
NM_001330723.2(SNX27):c.1122C>T (p.Asp374=) rs1158496817
NM_001330723.2(SNX27):c.1128T>C (p.Ala376=)
NM_001330723.2(SNX27):c.1149+10T>C rs368706118
NM_001330723.2(SNX27):c.1150-4A>C
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.1185A>C (p.Ala395=) rs1571868477
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.1240-4_1240-3insCTT
NM_001330723.2(SNX27):c.1240-5_1240-4insCT
NM_001330723.2(SNX27):c.1240-6T>C rs1033947503
NM_001330723.2(SNX27):c.1287T>C (p.Phe429=) rs1230597000
NM_001330723.2(SNX27):c.1299C>G (p.Ala433=) rs1571880748
NM_001330723.2(SNX27):c.1320G>A (p.Gly440=)
NM_001330723.2(SNX27):c.1323C>T (p.His441=) rs758182367
NM_001330723.2(SNX27):c.1347G>A (p.Thr449=)
NM_001330723.2(SNX27):c.1350C>T (p.His450=)
NM_001330723.2(SNX27):c.1365C>T (p.Ala455=) rs555284794
NM_001330723.2(SNX27):c.138C>T (p.Ile46=)
NM_001330723.2(SNX27):c.1390-4C>T
NM_001330723.2(SNX27):c.141C>T (p.Val47=)
NM_001330723.2(SNX27):c.1464C>T (p.Phe488=) rs767464354
NM_001330723.2(SNX27):c.147C>T (p.Ser49=) rs1571741449
NM_001330723.2(SNX27):c.1518+10A>G rs745587168
NM_001330723.2(SNX27):c.1519-8T>C
NM_001330723.2(SNX27):c.15C>T (p.Asp5=) rs1375319601
NM_001330723.2(SNX27):c.189G>A (p.Glu63=)
NM_001330723.2(SNX27):c.199C>T (p.Leu67=)
NM_001330723.2(SNX27):c.231G>A (p.Pro77=)
NM_001330723.2(SNX27):c.234G>A (p.Leu78=) rs763585979
NM_001330723.2(SNX27):c.240T>C (p.His80=)
NM_001330723.2(SNX27):c.249C>T (p.Ala83=) rs779378055
NM_001330723.2(SNX27):c.279C>A (p.Ala93=)
NM_001330723.2(SNX27):c.306G>C (p.Leu102=)
NM_001330723.2(SNX27):c.311+9C>T
NM_001330723.2(SNX27):c.318C>T (p.His106=) rs574875506
NM_001330723.2(SNX27):c.336G>C (p.Ala112=)
NM_001330723.2(SNX27):c.342C>T (p.His114=) rs777998061
NM_001330723.2(SNX27):c.345G>A (p.Lys115=)
NM_001330723.2(SNX27):c.364C>A (p.Arg122=)
NM_001330723.2(SNX27):c.396G>C (p.Val132=)
NM_001330723.2(SNX27):c.399A>G (p.Leu133=)
NM_001330723.2(SNX27):c.423T>C (p.Asp141=)
NM_001330723.2(SNX27):c.447G>A (p.Ser149=)
NM_001330723.2(SNX27):c.528T>C (p.Asn176=)
NM_001330723.2(SNX27):c.543+6_543+7insA rs778540185
NM_001330723.2(SNX27):c.546A>G (p.Val182=)
NM_001330723.2(SNX27):c.603T>C (p.Ala201=)
NM_001330723.2(SNX27):c.621G>A (p.Leu207=) rs754801297
NM_001330723.2(SNX27):c.660A>G (p.Pro220=)
NM_001330723.2(SNX27):c.6G>T (p.Ala2=)
NM_001330723.2(SNX27):c.72G>A (p.Gly24=) rs1293704681
NM_001330723.2(SNX27):c.737-6C>T
NM_001330723.2(SNX27):c.75G>A (p.Gly25=)
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.795C>A (p.Ser265=) rs772609394
NM_001330723.2(SNX27):c.802-4C>T
NM_001330723.2(SNX27):c.812G>A (p.Gly271Asp)
NM_001330723.2(SNX27):c.816G>A (p.Val272=) rs552371418
NM_001330723.2(SNX27):c.819C>T (p.Ser273=)
NM_001330723.2(SNX27):c.822C>T (p.Asp274=) rs771189015
NM_001330723.2(SNX27):c.912C>T (p.Ile304=)
NM_001330723.2(SNX27):c.942A>G (p.Thr314=) rs1553261783
NM_001330723.2(SNX27):c.948T>C (p.Asn316=)
NM_001330723.2(SNX27):c.967G>A (p.Val323Met) rs61762678
NM_001330723.2(SNX27):c.99C>T (p.Asn33=)
NM_001365536.1(SCN9A):c.*1605_*1606del rs200091138
NM_001365536.1(SCN9A):c.*1960_*1962dup rs202073550
NM_001365536.1(SCN9A):c.1975-3del rs35888674
NM_001365536.1(SCN9A):c.2875-5del rs774840081
NM_006920.6(SCN1A):c.3970-14C>T rs1241008825

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