ClinVar Miner

List of variants in gene SCN1A reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.384-20G>C rs192956852 0.00635
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) rs114137271 0.00322
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) rs144679294 0.00321
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00087
NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=) rs145101180 0.00062
NM_001165963.4(SCN1A):c.1378-3T>C rs150964803 0.00016
NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln) rs145670933 0.00016
NM_001165963.4(SCN1A):c.1410C>T (p.Ser470=) rs142571794 0.00015
NM_001165963.4(SCN1A):c.579C>T (p.Leu193=) rs116478064 0.00014
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) rs148442069 0.00011
NM_001165963.4(SCN1A):c.333A>G (p.Leu111=) rs201592683 0.00006
NM_001165963.4(SCN1A):c.80G>C (p.Arg27Thr) rs121917906 0.00006
NM_001165963.4(SCN1A):c.1440A>C (p.Ser480=) rs201383347 0.00005
NM_001165963.4(SCN1A):c.2094C>T (p.His698=) rs372260058 0.00005
NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln) rs150154265 0.00005
NM_001165963.4(SCN1A):c.2926A>C (p.Met976Leu) rs773681556 0.00004
NM_001165963.4(SCN1A):c.429G>A (p.Val143=) rs1050330603 0.00004
NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys) rs769582667 0.00003
NM_001165963.4(SCN1A):c.144C>T (p.Gly48=) rs886043534 0.00003
NM_001165963.4(SCN1A):c.3039A>G (p.Gln1013=) rs780391343 0.00003
NM_001165963.4(SCN1A):c.890C>T (p.Thr297Ile) rs121918771 0.00003
NM_001165963.4(SCN1A):c.1980T>G (p.Pro660=) rs1379958414 0.00002
NM_001165963.4(SCN1A):c.2552A>G (p.Asn851Ser) rs561912072 0.00002
NM_001165963.4(SCN1A):c.2715C>T (p.Ala905=) rs778280690 0.00002
NM_001165963.4(SCN1A):c.670T>C (p.Leu224=) rs764891727 0.00002
NM_001165963.4(SCN1A):c.765G>A (p.Val255=) rs377331238 0.00002
NM_001165963.4(SCN1A):c.1546G>A (p.Asp516Asn) rs757923791 0.00001
NM_001165963.4(SCN1A):c.1842C>T (p.His614=) rs370463183 0.00001
NM_001165963.4(SCN1A):c.1852C>T (p.Arg618Cys) rs750516202 0.00001
NM_001165963.4(SCN1A):c.1910C>T (p.Ala637Val) rs1266240114 0.00001
NM_001165963.4(SCN1A):c.2240T>C (p.Ile747Thr) rs980156920 0.00001
NM_001165963.4(SCN1A):c.228C>G (p.Pro76=) rs1173774565 0.00001
NM_001165963.4(SCN1A):c.2520G>T (p.Val840=) rs757851017 0.00001
NM_001165963.4(SCN1A):c.2547C>T (p.Leu849=) rs147360576 0.00001
NM_001165963.4(SCN1A):c.2701G>A (p.Val901Ile) rs12617205 0.00001
NM_001165963.4(SCN1A):c.2721C>T (p.Val907=) rs748504238 0.00001
NM_001165963.4(SCN1A):c.3074A>T (p.Tyr1025Phe) rs752532497 0.00001
NM_001165963.4(SCN1A):c.559C>T (p.Arg187Trp) rs1419611654 0.00001
NM_001165963.4(SCN1A):c.643T>C (p.Leu215=) rs779837260 0.00001
NM_001165963.4(SCN1A):c.678G>A (p.Thr226=) rs571355844 0.00001
NM_001165963.4(SCN1A):c.694+9A>G rs754260524 0.00001
GRCh37/hg19 2q24.3(chr2:166915080-166915198)x1
NM_001165963.4(SCN1A):c.1028+5G>C rs1553548057
NM_001165963.4(SCN1A):c.1072C>A (p.Pro358Thr) rs121917923
NM_001165963.4(SCN1A):c.1091G>T (p.Ser364Ile) rs752775574
NM_001165963.4(SCN1A):c.1096G>C (p.Asp366His) rs750209664
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) rs794726799
NM_001165963.4(SCN1A):c.1133T>A (p.Leu378Gln) rs1698003832
NM_001165963.4(SCN1A):c.1141C>A (p.Gln381Lys) rs1553547403
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys) rs121917929
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1181C>T (p.Ala394Val) rs2105862847
NM_001165963.4(SCN1A):c.1182T>C (p.Ala394=)
NM_001165963.4(SCN1A):c.1191A>C (p.Lys397Asn)
NM_001165963.4(SCN1A):c.1191A>G (p.Lys397=)
NM_001165963.4(SCN1A):c.1271T>C (p.Met424Thr) rs1574234690
NM_001165963.4(SCN1A):c.1280A>C (p.Glu427Ala) rs1697894901
NM_001165963.4(SCN1A):c.1303del (p.Glu435fs) rs2105861548
NM_001165963.4(SCN1A):c.1312G>C (p.Glu438Gln)
NM_001165963.4(SCN1A):c.1323_1328del (p.Ala442_Glu443del) rs1697886499
NM_001165963.4(SCN1A):c.1341G>A (p.Met447Ile) rs2105861173
NM_001165963.4(SCN1A):c.1377G>A (p.Gln459=) rs1697877323
NM_001165963.4(SCN1A):c.137_165del (p.Glu46fs) rs1684678839
NM_001165963.4(SCN1A):c.1477A>C (p.Ser493Arg) rs1574225131
NM_001165963.4(SCN1A):c.1479T>A (p.Ser493Arg) rs200545739
NM_001165963.4(SCN1A):c.1539A>G (p.Glu513=) rs587781144
NM_001165963.4(SCN1A):c.1548T>C (p.Asp516=) rs1057524611
NM_001165963.4(SCN1A):c.1598del (p.Gly533fs) rs1697640966
NM_001165963.4(SCN1A):c.1633T>G (p.Tyr545Asp) rs1064794913
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_001165963.4(SCN1A):c.1813_1822del (p.Arg605fs) rs1697464108
NM_001165963.4(SCN1A):c.1850_1851del (p.Arg617fs)
NM_001165963.4(SCN1A):c.2011del (p.Glu670_Val671insTer)
NM_001165963.4(SCN1A):c.2044-5dup rs549232924
NM_001165963.4(SCN1A):c.2095G>A (p.Val699Ile) rs1260934774
NM_001165963.4(SCN1A):c.2122T>C (p.Ser708Pro) rs1271652586
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2156T>A (p.Ile719Asn) rs1553543839
NM_001165963.4(SCN1A):c.2177-6A>G rs1559210650
NM_001165963.4(SCN1A):c.2208_2209del (p.Cys737fs) rs1697164036
NM_001165963.4(SCN1A):c.2244G>A (p.Trp748Ter) rs1553543340
NM_001165963.4(SCN1A):c.2336T>C (p.Val779Ala) rs1261711145
NM_001165963.4(SCN1A):c.2345C>T (p.Thr782Ile) rs2105827881
NM_001165963.4(SCN1A):c.2360T>C (p.Met787Thr) rs773695263
NM_001165963.4(SCN1A):c.237C>T (p.Asp79=) rs1276982403
NM_001165963.4(SCN1A):c.2380G>A (p.Asp794Asn) rs1360811002
NM_001165963.4(SCN1A):c.2415+8T>C rs1064797265
NM_001165963.4(SCN1A):c.2445G>A (p.Met815Ile)
NM_001165963.4(SCN1A):c.249C>T (p.Tyr83=)
NM_001165963.4(SCN1A):c.2510del (p.Gly837fs) rs2105817078
NM_001165963.4(SCN1A):c.252T>A (p.Tyr84Ter) rs2105982029
NM_001165963.4(SCN1A):c.2573T>C (p.Leu858Pro) rs1696865258
NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter) rs397514459
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001165963.4(SCN1A):c.2585G>T (p.Arg862Leu) rs121918785
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.2615C>A (p.Ser872Tyr) rs794726786
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met) rs121918623
NM_001165963.4(SCN1A):c.264+4A>T rs1574371074
NM_001165963.4(SCN1A):c.265-2137C>T
NM_001165963.4(SCN1A):c.2667T>C (p.Ala889=) rs1206449277
NM_001165963.4(SCN1A):c.266del (p.Thr89fs) rs1064797266
NM_001165963.4(SCN1A):c.2691G>C (p.Leu897Phe) rs1574183148
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys) rs121918788
NM_001165963.4(SCN1A):c.2796G>C (p.Trp932Cys) rs1553541303
NM_001165963.4(SCN1A):c.2816A>C (p.His939Pro) rs398123589
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys) rs121918775
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.2846G>C (p.Cys949Ser) rs1696624989
NM_001165963.4(SCN1A):c.2852A>G (p.Glu951Gly) rs1574181209
NM_001165963.4(SCN1A):c.2885T>C (p.Val962Ala) rs138858653
NM_001165963.4(SCN1A):c.2935G>A (p.Gly979Arg) rs121918754
NM_001165963.4(SCN1A):c.2981C>T (p.Ser994Leu) rs1574172286
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_001165963.4(SCN1A):c.310_312del (p.Ala104del) rs1699362921
NM_001165963.4(SCN1A):c.314C>T (p.Thr105Ile) rs796053089
NM_001165963.4(SCN1A):c.320C>T (p.Ala107Val) rs1559254819
NM_001165963.4(SCN1A):c.382_383+4del
NM_001165963.4(SCN1A):c.416T>G (p.Leu139Trp) rs1553552378
NM_001165963.4(SCN1A):c.442del (p.Ser148fs) rs1699143102
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln) rs796053090
NM_001165963.4(SCN1A):c.487G>T (p.Gly163Ter) rs1553551498
NM_001165963.4(SCN1A):c.491T>A (p.Ile164Lys) rs1574282312
NM_001165963.4(SCN1A):c.512del (p.Ile171fs) rs2105902403
NM_001165963.4(SCN1A):c.539T>G (p.Leu180Ter) rs1574281711
NM_001165963.4(SCN1A):c.53C>T (p.Thr18Ile)
NM_001165963.4(SCN1A):c.53_55del (p.Thr18del)
NM_001165963.4(SCN1A):c.563A>G (p.Asp188Gly)
NM_001165963.4(SCN1A):c.566C>T (p.Pro189Leu) rs2105901930
NM_001165963.4(SCN1A):c.594del (p.Thr199fs) rs1698940903
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.602+6_602+7dup rs577627288
NM_001165963.4(SCN1A):c.626_694+31del
NM_001165963.4(SCN1A):c.633T>C (p.Asn211=)
NM_001165963.4(SCN1A):c.655A>G (p.Arg219Gly) rs1553550574
NM_001165963.4(SCN1A):c.667G>C (p.Ala223Pro) rs1553550552
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001165963.4(SCN1A):c.700A>G (p.Lys234Glu) rs1553549993
NM_001165963.4(SCN1A):c.717C>A (p.Ala239=) rs759923734
NM_001165963.4(SCN1A):c.749T>A (p.Val250Glu) rs1553549845
NM_001165963.4(SCN1A):c.779dup (p.Phe261fs) rs1574265485
NM_001165963.4(SCN1A):c.782_788del (p.Val260_Phe261insTer) rs1698602478
NM_001165963.4(SCN1A):c.797T>C (p.Leu266Pro) rs1559238432
NM_001165963.4(SCN1A):c.802C>T (p.Leu268=) rs2105889931
NM_001165963.4(SCN1A):c.842C>T (p.Pro281Leu) rs796052964
NM_001165963.4(SCN1A):c.919G>T (p.Glu307Ter) rs1275890918
NM_001165963.4(SCN1A):c.949T>C (p.Tyr317His) rs1553549461
NM_001165963.4(SCN1A):c.964+1G>C rs1574263047
NM_001165963.4(SCN1A):c.964A>G (p.Arg322Gly)
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_001165963.4(SCN1A):c.995A>T (p.Asp332Val)

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