ClinVar Miner

List of variants in gene SCN1A studied for not specified

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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.965-21C>T rs994399 0.66184
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66162
NM_001165963.4(SCN1A):c.2176+17A>G rs59251406 0.03846
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123 0.03029
NM_001165963.4(SCN1A):c.1662+9C>A rs7559148 0.02030
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.1377+10C>T rs56112036 0.00248
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_001165963.4(SCN1A):c.68C>T (p.Ala23Val) rs139397227 0.00138
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.1000C>G (p.Leu334Val) rs201870762 0.00030
NM_001165963.4(SCN1A):c.694+10A>G rs373417440 0.00019
NM_001165963.4(SCN1A):c.1378-3T>C rs150964803 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.1680T>C (p.Arg560=) rs145662732 0.00011
NM_001165963.4(SCN1A):c.2649C>T (p.Ile883=) rs543436497 0.00008
NM_001165963.4(SCN1A):c.1170+16C>T rs377618565 0.00006
NM_001165963.4(SCN1A):c.2176+11A>C rs201604887 0.00006
NM_001165963.4(SCN1A):c.333A>G (p.Leu111=) rs201592683 0.00006
NM_001165963.4(SCN1A):c.695-18T>C rs199610378 0.00006
NM_001165963.4(SCN1A):c.964+11T>C rs201531417 0.00006
NM_001165963.4(SCN1A):c.2094C>T (p.His698=) rs372260058 0.00005
NM_001165963.4(SCN1A):c.2125C>G (p.Gln709Glu) rs370037455 0.00005
NM_001165963.4(SCN1A):c.72T>C (p.Ala24=) rs922097254 0.00005
NM_001165963.4(SCN1A):c.2590C>T (p.Leu864=) rs140035595 0.00004
NM_001165963.4(SCN1A):c.1065T>C (p.Gly355=) rs757535449 0.00003
NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys) rs769582667 0.00003
NM_001165963.4(SCN1A):c.3039A>G (p.Gln1013=) rs780391343 0.00003
NM_001165963.4(SCN1A):c.965-20G>A rs369517865 0.00003
NM_001165963.4(SCN1A):c.1911G>A (p.Ala637=) rs192102141 0.00002
NM_001165963.4(SCN1A):c.2043+9G>A rs1389330683 0.00002
NM_001165963.4(SCN1A):c.2715C>T (p.Ala905=) rs778280690 0.00002
NM_001165963.4(SCN1A):c.1171-19C>A rs929127955 0.00001
NM_001165963.4(SCN1A):c.1663-3T>C rs766418091 0.00001
NM_001165963.4(SCN1A):c.18T>G (p.Leu6=) rs1553561004 0.00001
NM_001165963.4(SCN1A):c.203T>C (p.Ile68Thr) rs758871507 0.00001
NM_001165963.4(SCN1A):c.2044-20A>G rs777660738 0.00001
NM_001165963.4(SCN1A):c.265-4A>G rs776470979 0.00001
NM_001165963.4(SCN1A):c.2947-9G>T rs773941197 0.00001
NM_001165963.4(SCN1A):c.602+7G>A rs767262924 0.00001
NM_001165963.4(SCN1A):c.603-20G>A rs554276653 0.00001
NM_001165963.4(SCN1A):c.606C>T (p.Tyr202=) rs374555589 0.00001
NM_001165963.4(SCN1A):c.694+9A>G rs754260524 0.00001
NM_001165963.4(SCN1A):c.870T>C (p.His290=) rs755274788 0.00001
NM_001165963.4(SCN1A):c.90A>G (p.Ala30=) rs750748658 0.00001
NM_001165963.4(SCN1A):c.1005A>G (p.Leu335=) rs760865208
NM_001165963.4(SCN1A):c.1082G>A (p.Gly361Asp) rs1553547528
NM_001165963.4(SCN1A):c.1171-10_1171-9del rs372840031
NM_001165963.4(SCN1A):c.1201A>G (p.Ile401Val) rs1697908394
NM_001165963.4(SCN1A):c.1275C>A (p.Ala425=) rs1057520401
NM_001165963.4(SCN1A):c.1329A>G (p.Glu443=) rs1553546728
NM_001165963.4(SCN1A):c.1378-6A>G rs796052951
NM_001165963.4(SCN1A):c.1429G>C (p.Gly477Arg) rs1553545777
NM_001165963.4(SCN1A):c.144C>A (p.Gly48=) rs886043534
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.1572A>T (p.Glu524Asp)
NM_001165963.4(SCN1A):c.1707T>C (p.Asn569=) rs778432457
NM_001165963.4(SCN1A):c.1787_1789del (p.Ser596del) rs796053061
NM_001165963.4(SCN1A):c.1850_1851delinsAT (p.Arg617Asn) rs796053063
NM_001165963.4(SCN1A):c.2044-5del rs549232924
NM_001165963.4(SCN1A):c.2044-5dup rs549232924
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001165963.4(SCN1A):c.2292T>A (p.Val764=) rs6432860
NM_001165963.4(SCN1A):c.2322C>A (p.Ile774=) rs752067973
NM_001165963.4(SCN1A):c.2392A>G (p.Asn798Asp) rs2105827436
NM_001165963.4(SCN1A):c.2404G>A (p.Val802Ile) rs1057518467
NM_001165963.4(SCN1A):c.2416-4T>G rs398123587
NM_001165963.4(SCN1A):c.2589+18_2589+19del rs3032638
NM_001165963.4(SCN1A):c.2590-11T>A rs1553541551
NM_001165963.4(SCN1A):c.2668C>T (p.Leu890=) rs1553541477
NM_001165963.4(SCN1A):c.2675A>G (p.Asn892Ser) rs1553541455
NM_001165963.4(SCN1A):c.2769C>T (p.Ile923=) rs267598969
NM_001165963.4(SCN1A):c.2946+4T>C rs1390205269
NM_001165963.4(SCN1A):c.2947-20A>C rs374476805
NM_001165963.4(SCN1A):c.2973T>C (p.Leu991=) rs1553540480
NM_001165963.4(SCN1A):c.383+7T>C rs1553553397
NM_001165963.4(SCN1A):c.398T>A (p.Leu133Gln) rs1131691440
NM_001165963.4(SCN1A):c.474-13T>A rs1057520357
NM_001165963.4(SCN1A):c.602+3_602+6del rs1698937795
NM_001165963.4(SCN1A):c.602+6_602+7dup rs577627288
NM_001165963.4(SCN1A):c.695-10T>C rs1553550021
NM_001165963.4(SCN1A):c.695-11C>T rs1553550024
NM_001165963.4(SCN1A):c.852T>C (p.Asn284=) rs748747434
NM_001165963.4(SCN1A):c.964+12_964+15del

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