ClinVar Miner

List of variants in gene SCN5A studied for long QT syndrome 3

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 418
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.87A>G (p.Ala29=) rs6599230 0.80621
NM_000335.5(SCN5A):c.*123A>G rs7429945 0.44373
NM_000335.5(SCN5A):c.*963C>T rs4073796 0.44325
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=) rs1805126 0.44288
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_000335.5(SCN5A):c.*1537T>C rs41315485 0.21494
NM_000335.5(SCN5A):c.1141-3C>A rs41312433 0.16821
NM_000335.5(SCN5A):c.*753C>T rs41310757 0.08896
NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=) rs13324293 0.06728
NM_000335.5(SCN5A):c.4845C>T (p.Phe1615=) rs41315495 0.05498
NM_000335.5(SCN5A):c.*2135C>A rs45502793 0.04380
NM_000335.5(SCN5A):c.100C>T (p.Arg34Cys) rs6791924 0.03086
NM_000335.5(SCN5A):c.*1165C>T rs41313017 0.01492
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) rs41313699 0.01360
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_000335.5(SCN5A):c.*159C>T rs41313019 0.01171
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_000335.5(SCN5A):c.*614G>A rs41315491 0.00841
NM_000335.5(SCN5A):c.*1164G>T rs41315489 0.00746
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
NM_000335.5(SCN5A):c.*1496T>G rs41313015 0.00573
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687 0.00537
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00510
NM_000335.5(SCN5A):c.*1820C>G rs45610536 0.00458
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129 0.00407
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00372
NM_000335.5(SCN5A):c.4434+13C>T rs148598985 0.00361
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00284
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099 0.00267
NM_000335.5(SCN5A):c.1890+14G>A rs145427253 0.00252
NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=) rs45437099 0.00242
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_000335.5(SCN5A):c.354C>T (p.His118=) rs45533640 0.00207
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138 0.00196
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_000335.5(SCN5A):c.*677G>A rs45458203 0.00177
NM_000335.5(SCN5A):c.4297-14T>C rs56104887 0.00117
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199 0.00109
NM_000335.5(SCN5A):c.*1284G>A rs41310755 0.00076
NM_000335.5(SCN5A):c.2437-13C>T rs45455099 0.00076
NM_000335.5(SCN5A):c.*1390A>G rs41310753 0.00074
NM_000335.5(SCN5A):c.*659C>T rs45446194 0.00074
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00068
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727 0.00064
NM_000335.5(SCN5A):c.*889C>A rs546849670 0.00063
NM_000335.5(SCN5A):c.*920G>C rs561475141 0.00063
NM_000335.5(SCN5A):c.*382T>C rs45459402 0.00061
NM_000335.5(SCN5A):c.*1414G>C rs74954894 0.00054
NM_000335.5(SCN5A):c.1335C>T (p.His445=) rs368045716 0.00048
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000335.5(SCN5A):c.*1166G>A rs947521286 0.00046
NM_000335.5(SCN5A):c.*1074C>G rs776171341 0.00045
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797 0.00043
NM_000335.5(SCN5A):c.1008G>A (p.Pro336=) rs200285003 0.00042
NM_000335.5(SCN5A):c.*160G>A rs772585696 0.00039
NM_000335.5(SCN5A):c.*1568G>C rs45503498 0.00038
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_000335.5(SCN5A):c.*1743G>A rs45474195 0.00029
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly) rs199473113 0.00024
NM_000335.5(SCN5A):c.5182G>A (p.Asp1728Asn) rs763880032 0.00023
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000335.5(SCN5A):c.*747G>A rs763830252 0.00020
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733 0.00019
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met) rs199473333 0.00018
NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His) rs137854610 0.00016
NM_000335.5(SCN5A):c.*1058G>T rs920940184 0.00014
NM_000335.5(SCN5A):c.1425A>C (p.Arg475Ser) rs199473116 0.00014
NM_000335.5(SCN5A):c.1384G>A (p.Glu462Lys) rs199473572 0.00012
NM_000335.5(SCN5A):c.2071G>A (p.Ala691Thr) rs199473146 0.00012
NM_000335.5(SCN5A):c.4167C>T (p.Thr1389=) rs747356664 0.00012
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln) rs191009474 0.00011
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) rs372970828 0.00011
NM_000335.5(SCN5A):c.1333C>G (p.His445Asp) rs199473112 0.00011
NM_000335.5(SCN5A):c.2151G>A (p.Pro717=) rs191840835 0.00011
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) rs199473341 0.00011
NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=) rs375752426 0.00011
NM_000335.5(SCN5A):c.1597C>T (p.Arg533Cys) rs775576991 0.00010
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His) rs146848219 0.00009
NM_000335.5(SCN5A):c.1889C>T (p.Thr630Met) rs777061524 0.00009
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His) rs199473145 0.00009
NM_000335.5(SCN5A):c.3388-7T>C rs41310769 0.00009
NM_000335.5(SCN5A):c.368C>T (p.Ala123Val) rs765699394 0.00009
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278 0.00009
NM_000335.5(SCN5A):c.5283C>T (p.Ile1761=) rs375323548 0.00009
NM_000335.5(SCN5A):c.5451C>T (p.Ala1817=) rs370114378 0.00009
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) rs45465995 0.00009
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_000335.5(SCN5A):c.934+4C>T rs182050752 0.00009
NM_000335.5(SCN5A):c.*688C>T rs550747620 0.00008
NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met) rs199473634 0.00008
NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu) rs199473638 0.00008
NM_000335.5(SCN5A):c.86C>T (p.Ala29Val) rs562675882 0.00008
NM_000335.5(SCN5A):c.*1151G>A rs557896083 0.00007
NM_000335.5(SCN5A):c.*331T>C rs551399685 0.00007
NM_000335.5(SCN5A):c.*1932C>T rs886058437 0.00006
NM_000335.5(SCN5A):c.1282G>A (p.Glu428Lys) rs199473111 0.00006
NM_000335.5(SCN5A):c.1855C>T (p.Leu619Phe) rs199473133 0.00006
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044 0.00006
NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys) rs373118001 0.00006
NM_000335.5(SCN5A):c.6001G>A (p.Ala2001Thr) rs771018427 0.00006
NM_000335.5(SCN5A):c.*990T>C rs886058448 0.00005
NM_000335.5(SCN5A):c.1654G>T (p.Gly552Trp) rs3918389 0.00005
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg) rs199473128 0.00005
NM_000335.5(SCN5A):c.1755C>T (p.His585=) rs201024847 0.00005
NM_000335.5(SCN5A):c.2077C>T (p.Arg693Cys) rs375306544 0.00005
NM_000335.5(SCN5A):c.3437C>A (p.Thr1146Asn) rs759374610 0.00005
NM_000335.5(SCN5A):c.3521G>A (p.Arg1174His) rs374314562 0.00005
NM_000335.5(SCN5A):c.4456A>C (p.Met1486Leu) rs199473258 0.00005
NM_000335.5(SCN5A):c.5847C>T (p.Tyr1949=) rs367778922 0.00005
NM_000335.5(SCN5A):c.1575C>T (p.Ser525=) rs370684004 0.00004
NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) rs201641342 0.00004
NM_000335.5(SCN5A):c.2102C>T (p.Pro701Leu) rs199473147 0.00004
NM_000335.5(SCN5A):c.2181C>T (p.Ile727=) rs186942072 0.00004
NM_000335.5(SCN5A):c.2597C>T (p.Ser866Leu) rs755194086 0.00004
NM_000335.5(SCN5A):c.3574C>T (p.Arg1192Trp) rs192379242 0.00004
NM_000335.5(SCN5A):c.3993G>A (p.Pro1331=) rs775789293 0.00004
NM_000335.5(SCN5A):c.4293G>A (p.Arg1431=) rs199473246 0.00004
NM_000335.5(SCN5A):c.4467G>A (p.Glu1489=) rs375026424 0.00004
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) rs199473260 0.00004
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_000335.5(SCN5A):c.53G>A (p.Arg18Gln) rs41311087 0.00004
NM_000335.5(SCN5A):c.5604C>T (p.Asp1868=) rs560476223 0.00004
NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln) rs199473069 0.00004
NM_000335.5(SCN5A):c.5792C>T (p.Ala1931Val) rs371194826 0.00004
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter) rs757532106 0.00004
NM_000335.5(SCN5A):c.5969G>A (p.Arg1990Gln) rs199473336 0.00004
NM_000335.5(SCN5A):c.6004G>A (p.Asp2002Asn) rs376697724 0.00004
NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met) rs762981322 0.00004
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
NM_000335.5(SCN5A):c.880G>A (p.Val294Met) rs199473086 0.00004
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser) rs137854608 0.00004
NM_000335.5(SCN5A):c.*1555C>T rs1040662890 0.00003
NM_000335.5(SCN5A):c.*663C>A rs540984871 0.00003
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His) rs199473101 0.00003
NM_000335.5(SCN5A):c.1557T>C (p.Ser519=) rs371560571 0.00003
NM_000335.5(SCN5A):c.1703G>A (p.Arg568His) rs199473125 0.00003
NM_000335.5(SCN5A):c.1706G>A (p.Arg569Gln) rs769292594 0.00003
NM_000335.5(SCN5A):c.1800G>A (p.Val600=) rs758101066 0.00003
NM_000335.5(SCN5A):c.1859G>A (p.Arg620His) rs746504626 0.00003
NM_000335.5(SCN5A):c.1880C>T (p.Pro627Leu) rs778522112 0.00003
NM_000335.5(SCN5A):c.2262+18C>G rs1011934257 0.00003
NM_000335.5(SCN5A):c.3389C>T (p.Thr1130Ile) rs199473197 0.00003
NM_000335.5(SCN5A):c.3460C>T (p.Pro1154Ser) rs781103369 0.00003
NM_000335.5(SCN5A):c.3539T>C (p.Val1180Ala) rs376965389 0.00003
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln) rs199473211 0.00003
NM_000335.5(SCN5A):c.3914G>A (p.Arg1305His) rs730880207 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser) rs200034939 0.00003
NM_000335.5(SCN5A):c.4339A>C (p.Ile1447Leu) rs199473250 0.00003
NM_000335.5(SCN5A):c.44G>C (p.Arg15Thr) rs373410109 0.00003
NM_000335.5(SCN5A):c.476A>G (p.Tyr159Cys) rs767116750 0.00003
NM_000335.5(SCN5A):c.4786G>A (p.Val1596Met) rs199473279 0.00003
NM_000335.5(SCN5A):c.4867G>A (p.Val1623Ile) rs794728888 0.00003
NM_000335.5(SCN5A):c.4914G>A (p.Gly1638=) rs1419998623 0.00003
NM_000335.5(SCN5A):c.5464G>A (p.Glu1822Lys) rs760837591 0.00003
NM_000335.5(SCN5A):c.5752C>T (p.Arg1918Cys) rs199473328 0.00003
NM_000335.5(SCN5A):c.5809G>A (p.Glu1937Lys) rs199473329 0.00003
NM_000335.5(SCN5A):c.5948C>T (p.Thr1983Ile) rs778230530 0.00003
NM_000335.5(SCN5A):c.5968C>T (p.Arg1990Trp) rs371308670 0.00003
NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter) rs765669597 0.00003
NM_000335.5(SCN5A):c.*1060G>A rs976491159 0.00002
NM_000335.5(SCN5A):c.*1087G>A rs886058446 0.00002
NM_000335.5(SCN5A):c.*2007G>A rs45593136 0.00002
NM_000335.5(SCN5A):c.1237G>A (p.Ala413Thr) rs199473110 0.00002
NM_000335.5(SCN5A):c.1410C>G (p.Asn470Lys) rs199473115 0.00002
NM_000335.5(SCN5A):c.1677A>G (p.Thr559=) rs376389170 0.00002
NM_000335.5(SCN5A):c.1992C>T (p.Ser664=) rs368167264 0.00002
NM_000335.5(SCN5A):c.2001C>T (p.Ser667=) rs587781161 0.00002
NM_000335.5(SCN5A):c.206G>A (p.Gly69Asp) rs758404546 0.00002
NM_000335.5(SCN5A):c.2182G>A (p.Val728Ile) rs958480279 0.00002
NM_000335.5(SCN5A):c.2365G>A (p.Val789Ile) rs199473159 0.00002
NM_000335.5(SCN5A):c.280A>G (p.Ile94Val) rs202114798 0.00002
NM_000335.5(SCN5A):c.3581G>A (p.Arg1194His) rs199473596 0.00002
NM_000335.5(SCN5A):c.3795C>T (p.Tyr1265=) rs371610895 0.00002
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg) rs780405533 0.00002
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_000335.5(SCN5A):c.495C>T (p.Thr165=) rs62242804 0.00002
NM_000335.5(SCN5A):c.5735G>A (p.Arg1912His) rs199473327 0.00002
NM_000335.5(SCN5A):c.5783G>A (p.Arg1928His) rs727504822 0.00002
NM_000335.5(SCN5A):c.5842G>A (p.Ala1948Thr) rs199473330 0.00002
NM_000335.5(SCN5A):c.5960T>G (p.Leu1987Arg) rs145009013 0.00002
NM_000335.5(SCN5A):c.6031C>T (p.Arg2011Cys) rs199473640 0.00002
NM_000335.5(SCN5A):c.874G>A (p.Gly292Ser) rs199473085 0.00002
NM_000335.5(SCN5A):c.*1884G>A rs45624736 0.00001
NM_000335.5(SCN5A):c.*204T>C rs147795595 0.00001
NM_000335.5(SCN5A):c.*475T>C rs889570615 0.00001
NM_000335.5(SCN5A):c.*587C>T rs1162696914 0.00001
NM_000335.5(SCN5A):c.*662C>T rs1264714663 0.00001
NM_000335.5(SCN5A):c.-53+12C>T rs886058464 0.00001
NM_000335.5(SCN5A):c.1051G>A (p.Gly351Ser) rs201276017 0.00001
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097 0.00001
NM_000335.5(SCN5A):c.1298G>A (p.Arg433His) rs879035421 0.00001
NM_000335.5(SCN5A):c.1491T>G (p.Ser497=) rs761505485 0.00001
NM_000335.5(SCN5A):c.1517T>A (p.Met506Lys) rs760531609 0.00001
NM_000335.5(SCN5A):c.152C>T (p.Ala51Val) rs727505131 0.00001
NM_000335.5(SCN5A):c.1537C>T (p.Arg513Cys) rs145733679 0.00001
NM_000335.5(SCN5A):c.154C>T (p.Pro52Ser) rs199473553 0.00001
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) rs199473119 0.00001
NM_000335.5(SCN5A):c.1595T>G (p.Phe532Cys) rs199473573 0.00001
NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln) rs199473121 0.00001
NM_000335.5(SCN5A):c.1606G>C (p.Asp536His) rs1475895120 0.00001
NM_000335.5(SCN5A):c.1705C>T (p.Arg569Trp) rs199473576 0.00001
NM_000335.5(SCN5A):c.1820G>T (p.Gly607Val) rs757119370 0.00001
NM_000335.5(SCN5A):c.1895C>T (p.Thr632Met) rs199473134 0.00001
NM_000335.5(SCN5A):c.1939G>T (p.Ala647Ser) rs753232371 0.00001
NM_000335.5(SCN5A):c.1946G>A (p.Cys649Tyr) rs1380959630 0.00001
NM_000335.5(SCN5A):c.1955G>A (p.Gly652Asp) rs762737339 0.00001
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys) rs199473579 0.00001
NM_000335.5(SCN5A):c.2038C>T (p.Arg680Cys) rs376173627 0.00001
NM_000335.5(SCN5A):c.209A>G (p.Asn70Ser) rs368357262 0.00001
NM_000335.5(SCN5A):c.210T>G (p.Asn70Lys) rs199473050 0.00001
NM_000335.5(SCN5A):c.2236G>A (p.Glu746Lys) rs199473582 0.00001
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157 0.00001
NM_000335.5(SCN5A):c.2398C>T (p.Arg800Cys) rs764252430 0.00001
NM_000335.5(SCN5A):c.2399G>A (p.Arg800His) rs566251672 0.00001
NM_000335.5(SCN5A):c.2432G>A (p.Arg811His) rs769349991 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899 0.00001
NM_000335.5(SCN5A):c.2599G>A (p.Glu867Lys) rs199473167 0.00001
NM_000335.5(SCN5A):c.2621G>A (p.Gly874Asp) rs765698507 0.00001
NM_000335.5(SCN5A):c.2694G>A (p.Glu898=) rs2061655979 0.00001
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile) rs199473177 0.00001
NM_000335.5(SCN5A):c.316A>G (p.Ser106Gly) rs1331765859 0.00001
NM_000335.5(SCN5A):c.3388A>T (p.Thr1130Ser) rs371469522 0.00001
NM_000335.5(SCN5A):c.3410A>C (p.Glu1137Ala) rs199473198 0.00001
NM_000335.5(SCN5A):c.3439G>A (p.Ala1147Thr) rs762810998 0.00001
NM_000335.5(SCN5A):c.3497G>A (p.Cys1166Tyr) rs993780673 0.00001
NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr) rs199473595 0.00001
NM_000335.5(SCN5A):c.3601G>A (p.Val1201Met) rs375509048 0.00001
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_000335.5(SCN5A):c.3890C>T (p.Pro1297Leu) rs28937319 0.00001
NM_000335.5(SCN5A):c.3944G>A (p.Arg1315Gln) rs765907469 0.00001
NM_000335.5(SCN5A):c.4005C>T (p.Asn1335=) rs746892102 0.00001
NM_000335.5(SCN5A):c.4054G>A (p.Val1352Met) rs199473233 0.00001
NM_000335.5(SCN5A):c.4129G>A (p.Val1377Met) rs748312802 0.00001
NM_000335.5(SCN5A):c.4400T>C (p.Val1467Ala) rs794728883 0.00001
NM_000335.5(SCN5A):c.458C>T (p.Pro153Leu) rs1298498462 0.00001
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691 0.00001
NM_000335.5(SCN5A):c.4824G>A (p.Ser1608=) rs886058460 0.00001
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met) rs199473282 0.00001
NM_000335.5(SCN5A):c.4873C>T (p.Arg1625Cys) rs918933961 0.00001
NM_000335.5(SCN5A):c.4883G>A (p.Arg1628Gln) rs199473623 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000335.5(SCN5A):c.4G>A (p.Ala2Thr) rs199473042 0.00001
NM_000335.5(SCN5A):c.508T>A (p.Phe170Ile) rs371651284 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000335.5(SCN5A):c.5218G>A (p.Asp1740Asn) rs746418124 0.00001
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg) rs199473305 0.00001
NM_000335.5(SCN5A):c.5250C>T (p.Phe1750=) rs2061028836 0.00001
NM_000335.5(SCN5A):c.5299A>G (p.Ile1767Val) rs199473311 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000335.5(SCN5A):c.5365G>A (p.Asp1789Asn) rs772508476 0.00001
NM_000335.5(SCN5A):c.5455G>A (p.Ala1819Thr) rs764188413 0.00001
NM_000335.5(SCN5A):c.554C>T (p.Ala185Val) rs199473067 0.00001
NM_000335.5(SCN5A):c.5605G>A (p.Ala1869Thr) rs794728939 0.00001
NM_000335.5(SCN5A):c.5687G>A (p.Arg1896Gln) rs761369505 0.00001
NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His) rs370694515 0.00001
NM_000335.5(SCN5A):c.5800G>A (p.Gly1934Ser) rs199473637 0.00001
NM_000335.5(SCN5A):c.5935G>T (p.Val1979Phe) rs772258197 0.00001
NM_000335.5(SCN5A):c.5965G>C (p.Val1989Leu) rs765885732 0.00001
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=) rs538707712 0.00001
NM_000335.5(SCN5A):c.616A>T (p.Thr206Ser) rs1484635042 0.00001
NM_000335.5(SCN5A):c.65C>T (p.Ala22Val) rs776925980 0.00001
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) rs45546039 0.00001
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln) rs199473071 0.00001
NM_000335.5(SCN5A):c.786C>T (p.Ser262=) rs753246399 0.00001
NM_000335.5(SCN5A):c.787G>A (p.Val263Ile) rs752824646 0.00001
NM_000335.5(SCN5A):c.893G>A (p.Gly298Asp) rs759383134 0.00001
NM_000335.5(SCN5A):c.*1048G>A rs886058447
NM_000335.5(SCN5A):c.*1201C>A rs1449334566
NM_000335.5(SCN5A):c.*131G>A rs2060999631
NM_000335.5(SCN5A):c.*1802G>A rs1477171569
NM_000335.5(SCN5A):c.*1843T>G rs2060971810
NM_000335.5(SCN5A):c.*290G>A rs886058457
NM_000335.5(SCN5A):c.*486C>T rs886058455
NM_000335.5(SCN5A):c.*705C>A rs886058452
NM_000335.5(SCN5A):c.*962T>A rs4073797
NM_000335.5(SCN5A):c.-107G>A rs886058466
NM_000335.5(SCN5A):c.-70C>T rs886058465
NM_000335.5(SCN5A):c.-80C>A rs2062869269
NM_000335.5(SCN5A):c.1037A>G (p.Glu346Gly) rs780735882
NM_000335.5(SCN5A):c.1109C>T (p.Thr370Met) rs199473099
NM_000335.5(SCN5A):c.1207T>C (p.Tyr403His)
NM_000335.5(SCN5A):c.1218C>A (p.Asn406Lys) rs199473108
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter) rs1553607597
NM_000335.5(SCN5A):c.1338+2T>A rs786204839
NM_000335.5(SCN5A):c.1368G>C (p.Val456=) rs2061985964
NM_000335.5(SCN5A):c.1385A>C (p.Glu462Ala) rs199473114
NM_000335.5(SCN5A):c.1388T>G (p.Met463Arg) rs761628195
NM_000335.5(SCN5A):c.1457C>G (p.Thr486Ser) rs1274970281
NM_000335.5(SCN5A):c.1498G>A (p.Glu500Lys) rs1060501148
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile) rs199473118
NM_000335.5(SCN5A):c.155C>A (p.Pro52His) rs769229586
NM_000335.5(SCN5A):c.1613G>T (p.Gly538Val) rs779486899
NM_000335.5(SCN5A):c.168G>A (p.Leu56=) rs376742447
NM_000335.5(SCN5A):c.1705C>G (p.Arg569Gly) rs199473576
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) rs730880211
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.1794T>C (p.Asn598=) rs2061958215
NM_000335.5(SCN5A):c.1890+2T>G
NM_000335.5(SCN5A):c.1993G>A (p.Ala665Thr) rs756474485
NM_000335.5(SCN5A):c.2078G>T (p.Arg693Leu) rs373087176
NM_000335.5(SCN5A):c.2275A>G (p.Ile759Val) rs199473155
NM_000335.5(SCN5A):c.2294C>T (p.Thr765Ile) rs2061688177
NM_000335.5(SCN5A):c.229G>A (p.Gly77Arg) rs1228779956
NM_000335.5(SCN5A):c.2335del (p.Gln779fs) rs2061687300
NM_000335.5(SCN5A):c.2425_2426del (p.Ser809fs)
NM_000335.5(SCN5A):c.2437-7T>C rs1012068196
NM_000335.5(SCN5A):c.246C>G (p.Asp82Glu) rs747643709
NM_000335.5(SCN5A):c.2482C>G (p.Leu828Val) rs794728929
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs) rs397514450
NM_000335.5(SCN5A):c.2643G>T (p.Met881Ile) rs1559756973
NM_000335.5(SCN5A):c.2683C>T (p.Leu895Phe)
NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu) rs199473175
NM_000335.5(SCN5A):c.274-5C>G rs773669619
NM_000335.5(SCN5A):c.2756T>C (p.Phe919Ser) rs794728868
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.5(SCN5A):c.3388-1G>C
NM_000335.5(SCN5A):c.3422C>T (p.Ala1141Val) rs879255356
NM_000335.5(SCN5A):c.3503C>G (p.Thr1168Ser) rs779305181
NM_000335.5(SCN5A):c.3523T>C (p.Cys1175Arg) rs1390530399
NM_000335.5(SCN5A):c.3524G>A (p.Cys1175Tyr) rs2061472260
NM_000335.5(SCN5A):c.3530G>C (p.Cys1177Ser) rs1169229420
NM_000335.5(SCN5A):c.3545C>T (p.Thr1182Ile) rs1437242831
NM_000335.5(SCN5A):c.3564G>A (p.Lys1188=) rs1375890695
NM_000335.5(SCN5A):c.3577T>A (p.Leu1193Met) rs1575748933
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.5(SCN5A):c.3626T>C (p.Phe1209Ser) rs794728875
NM_000335.5(SCN5A):c.3694A>G (p.Lys1232Glu)
NM_000335.5(SCN5A):c.3741T>G (p.Tyr1247Ter)
NM_000335.5(SCN5A):c.3803A>G (p.Asn1268Ser) rs761274563
NM_000335.5(SCN5A):c.3838-50A>C rs776046365
NM_000335.5(SCN5A):c.3866C>T (p.Thr1289Ile) rs2125844123
NM_000335.5(SCN5A):c.3877G>A (p.Ala1293Thr)
NM_000335.5(SCN5A):c.3913C>G (p.Arg1305Gly) rs1403211358
NM_000335.5(SCN5A):c.3944G>T (p.Arg1315Leu) rs765907469
NM_000335.5(SCN5A):c.3967G>A (p.Val1323Ile) rs1553695437
NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser) rs28937317
NM_000335.5(SCN5A):c.4073A>C (p.Lys1358Thr) rs758959053
NM_000335.5(SCN5A):c.4106A>G (p.Asp1369Gly) rs775485359
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.4242+1G>C rs794728879
NM_000335.5(SCN5A):c.427A>G (p.Thr143Ala) rs746026950
NM_000335.5(SCN5A):c.4289C>G (p.Ser1430Cys) rs1226701514
NM_000335.5(SCN5A):c.4296+4G>T rs2061175433
NM_000335.5(SCN5A):c.4390T>C (p.Phe1464Leu) rs1559728884
NM_000335.5(SCN5A):c.4414T>A (p.Phe1472Ile)
NM_000335.5(SCN5A):c.4434+5G>A rs1057520531
NM_000335.5(SCN5A):c.4439G>C (p.Gly1480Ala)
NM_000335.5(SCN5A):c.4450A>G (p.Ile1484Val) rs1553694247
NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys) rs199473259
NM_000335.5(SCN5A):c.4502G>A (p.Gly1501Asp) rs1230010586
NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) rs397514251
NM_000335.5(SCN5A):c.4553G>A (p.Gly1518Asp) rs1322825102
NM_000335.5(SCN5A):c.4591G>T (p.Val1531Phe) rs199473618
NM_000335.5(SCN5A):c.4598T>G (p.Ile1533Ser) rs1575712112
NM_000335.5(SCN5A):c.4613G>A (p.Cys1538Tyr) rs770780069
NM_000335.5(SCN5A):c.4668C>T (p.Ile1556=) rs886058461
NM_000335.5(SCN5A):c.4778T>G (p.Phe1593Cys)
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) rs137854607
NM_000335.5(SCN5A):c.4787T>C (p.Val1596Ala)
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.484T>G (p.Tyr162Asp)
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln) rs137854600
NM_000335.5(SCN5A):c.4865G>T (p.Arg1622Leu) rs137854600
NM_000335.5(SCN5A):c.4910G>T (p.Arg1637Leu) rs374557801
NM_000335.5(SCN5A):c.4937T>C (p.Leu1646Pro) rs1060499611
NM_000335.5(SCN5A):c.4948A>T (p.Met1650Leu) rs794728889
NM_000335.5(SCN5A):c.4978G>A (p.Gly1660Arg) rs199473292
NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter)
NM_000335.5(SCN5A):c.5086T>C (p.Phe1696Leu) rs2125826544
NM_000335.5(SCN5A):c.5131G>A (p.Gly1711Ser) rs199473298
NM_000335.5(SCN5A):c.5284G>A (p.Val1762Met) rs199473631
NM_000335.5(SCN5A):c.5293A>T (p.Met1765Leu) rs199473310
NM_000335.5(SCN5A):c.5354T>C (p.Leu1785Pro) rs199473315
NM_000335.5(SCN5A):c.5372A>T (p.Asp1791Val) rs774917987
NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys) rs137854614
NM_000335.5(SCN5A):c.5382_5384dup (p.Tyr1794_Glu1795insAsp) rs397514449
NM_000335.5(SCN5A):c.5403C>G (p.Asp1801Glu) rs1367727373
NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs) rs1060501127
NM_000335.5(SCN5A):c.5452_5454delinsAAC (p.Asp1818Asn) rs2061022221
NM_000335.5(SCN5A):c.5454_5455inv (p.Ala1819Thr)
NM_000335.5(SCN5A):c.5485C>A (p.Pro1829Thr) rs2061021014
NM_000335.5(SCN5A):c.5488A>C (p.Asn1830His) rs2125825520
NM_000335.5(SCN5A):c.5521A>T (p.Met1841Leu) rs368967393
NM_000335.5(SCN5A):c.5536C>G (p.Arg1846Gly) rs768246863
NM_000335.5(SCN5A):c.5587G>A (p.Glu1863Lys) rs1060501129
NM_000335.5(SCN5A):c.5588A>G (p.Glu1863Gly) rs2125825258
NM_000335.5(SCN5A):c.5624A>T (p.Glu1875Val) rs2061017114
NM_000335.5(SCN5A):c.5698G>C (p.Glu1900Gln) rs199473325
NM_000335.5(SCN5A):c.5795G>T (p.Gly1932Val) rs758704113
NM_000335.5(SCN5A):c.5798G>A (p.Ser1933Asn) rs730880209
NM_000335.5(SCN5A):c.5811A>C (p.Glu1937Asp) rs2061011355
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met) rs41315493
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.5855G>A (p.Ser1952Asn) rs781270220
NM_000335.5(SCN5A):c.5900_5908dup (p.Ile1967_Ser1969dup) rs1332941398
NM_000335.5(SCN5A):c.6007T>A (p.Phe2003Ile) rs41311117
NM_000335.5(SCN5A):c.6007T>G (p.Phe2003Val) rs41311117
NM_000335.5(SCN5A):c.6014C>G (p.Pro2005Arg) rs199473338
NM_000335.5(SCN5A):c.656G>C (p.Arg219Pro) rs878855296
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter) rs794728849
NM_000335.5(SCN5A):c.760A>T (p.Met254Leu) rs2125910458
NM_000335.5(SCN5A):c.773T>C (p.Val258Ala) rs1184094156
NM_000335.5(SCN5A):c.795C>T (p.Ala265=) rs527692731
NM_000335.5(SCN5A):c.878C>G (p.Ser293Cys)
NM_198056.2(SCN5A):c.86_87invCA (p.Ala29Val)

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