ClinVar Miner

List of variants in gene SCN5A studied for Brugada syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 525
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.*1453dup rs397763929 0.23236
NM_000335.5(SCN5A):c.4845C>T (p.Phe1615=) rs41315495 0.05498
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00372
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
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.553G>A (p.Ala185Thr) rs192113333 0.00049
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu) rs199473320 0.00041
NM_000335.5(SCN5A):c.694G>A (p.Val232Ile) rs45471994 0.00041
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_000335.5(SCN5A):c.*1673C>T rs886058443 0.00024
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000335.5(SCN5A):c.*1969C>T rs190416544 0.00020
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000335.5(SCN5A):c.1333C>G (p.His445Asp) rs199473112 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.3388-7T>C rs41310769 0.00009
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn) rs199473599 0.00009
NM_000335.5(SCN5A):c.5035G>A (p.Ala1679Thr) rs199473294 0.00009
NM_000335.5(SCN5A):c.934+4C>T rs182050752 0.00009
NM_000335.5(SCN5A):c.86C>T (p.Ala29Val) rs562675882 0.00008
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=) rs200868190 0.00006
NM_000335.5(SCN5A):c.1855C>T (p.Leu619Phe) rs199473133 0.00006
NM_000335.5(SCN5A):c.4401C>T (p.Val1467=) rs766197312 0.00006
NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys) rs373118001 0.00006
NM_000335.5(SCN5A):c.955G>A (p.Gly319Ser) rs199473090 0.00006
NM_000335.5(SCN5A):c.2598G>A (p.Ser866=) rs371173851 0.00005
NM_000335.5(SCN5A):c.3437C>A (p.Thr1146Asn) rs759374610 0.00005
NM_000335.5(SCN5A):c.4083G>A (p.Arg1361=) rs377173580 0.00005
NM_000335.5(SCN5A):c.4590C>T (p.Asp1530=) rs372507927 0.00005
NM_000335.5(SCN5A):c.103G>A (p.Gly35Ser) rs199473552 0.00004
NM_000335.5(SCN5A):c.1065C>T (p.Phe355=) rs45570333 0.00004
NM_000335.5(SCN5A):c.1153G>A (p.Ala385Thr) rs771588294 0.00004
NM_000335.5(SCN5A):c.1281C>T (p.Thr427=) rs375989197 0.00004
NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) rs201641342 0.00004
NM_000335.5(SCN5A):c.1858C>T (p.Arg620Cys) rs199473577 0.00004
NM_000335.5(SCN5A):c.1976G>A (p.Arg659Gln) rs374908012 0.00004
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=) rs878911306 0.00004
NM_000335.5(SCN5A):c.2496C>T (p.Ile832=) rs761287478 0.00004
NM_000335.5(SCN5A):c.3692G>A (p.Arg1231Gln) rs199473206 0.00004
NM_000335.5(SCN5A):c.3905G>A (p.Arg1302Gln) rs977717858 0.00004
NM_000335.5(SCN5A):c.4467G>A (p.Glu1489=) rs375026424 0.00004
NM_000335.5(SCN5A):c.4807G>A (p.Val1603Met) rs199473280 0.00004
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys) rs199473335 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.*945C>A rs886058450 0.00003
NM_000335.5(SCN5A):c.-7T>G rs863224816 0.00003
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His) rs199473101 0.00003
NM_000335.5(SCN5A):c.1366G>A (p.Val456Met) rs760016062 0.00003
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His) rs45627438 0.00003
NM_000335.5(SCN5A):c.1663G>A (p.Glu555Lys) rs199473123 0.00003
NM_000335.5(SCN5A):c.1703G>A (p.Arg568His) rs199473125 0.00003
NM_000335.5(SCN5A):c.21T>A (p.Pro7=) rs587781157 0.00003
NM_000335.5(SCN5A):c.2553C>A (p.Phe851Leu) rs199473340 0.00003
NM_000335.5(SCN5A):c.2657A>C (p.His886Pro) rs199473169 0.00003
NM_000335.5(SCN5A):c.2745C>T (p.Cys915=) rs372782494 0.00003
NM_000335.5(SCN5A):c.2787+10C>T rs1030956093 0.00003
NM_000335.5(SCN5A):c.3388-3T>C rs949932623 0.00003
NM_000335.5(SCN5A):c.3517C>T (p.Arg1173Trp) rs367906630 0.00003
NM_000335.5(SCN5A):c.3663+4C>G rs539737269 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.4639G>A (p.Glu1547Lys) rs199473271 0.00003
NM_000335.5(SCN5A):c.476A>G (p.Tyr159Cys) rs767116750 0.00003
NM_000335.5(SCN5A):c.482+10T>G rs762598150 0.00003
NM_000335.5(SCN5A):c.5234C>T (p.Ala1745Val) rs778236407 0.00003
NM_000335.5(SCN5A):c.5479G>A (p.Ala1827Thr) rs774593360 0.00003
NM_000335.5(SCN5A):c.5642C>T (p.Ala1881Val) rs1414155457 0.00003
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr) rs137854603 0.00003
NM_000335.5(SCN5A):c.5809G>A (p.Glu1937Lys) rs199473329 0.00003
NM_000335.5(SCN5A):c.1237G>A (p.Ala413Thr) rs199473110 0.00002
NM_000335.5(SCN5A):c.157C>T (p.Arg53Trp) rs878859550 0.00002
NM_000335.5(SCN5A):c.1764T>C (p.His588=) rs775985491 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.2365G>A (p.Val789Ile) rs199473159 0.00002
NM_000335.5(SCN5A):c.23G>A (p.Arg8Gln) rs564261427 0.00002
NM_000335.5(SCN5A):c.2667C>T (p.Leu889=) rs587781162 0.00002
NM_000335.5(SCN5A):c.280A>G (p.Ile94Val) rs202114798 0.00002
NM_000335.5(SCN5A):c.328G>A (p.Ala110Thr) rs730880202 0.00002
NM_000335.5(SCN5A):c.3795C>T (p.Tyr1265=) rs371610895 0.00002
NM_000335.5(SCN5A):c.3984C>T (p.Gly1328=) rs761384669 0.00002
NM_000335.5(SCN5A):c.4015G>A (p.Val1339Ile) rs199473605 0.00002
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg) rs780405533 0.00002
NM_000335.5(SCN5A):c.4209C>T (p.Asn1403=) rs397517954 0.00002
NM_000335.5(SCN5A):c.436G>A (p.Val146Met) rs199473061 0.00002
NM_000335.5(SCN5A):c.4695C>G (p.Leu1565=) rs727505094 0.00002
NM_000335.5(SCN5A):c.4745G>A (p.Arg1582His) rs199473621 0.00002
NM_000335.5(SCN5A):c.495C>T (p.Thr165=) rs62242804 0.00002
NM_000335.5(SCN5A):c.5763G>A (p.Lys1921=) rs760280154 0.00002
NM_000335.5(SCN5A):c.5842G>A (p.Ala1948Thr) rs199473330 0.00002
NM_000335.5(SCN5A):c.5952C>T (p.Ser1984=) rs1005750243 0.00002
NM_000335.5(SCN5A):c.612-2A>G rs370438420 0.00002
NM_000335.5(SCN5A):c.845G>A (p.Arg282His) rs199473083 0.00002
NM_000335.5(SCN5A):c.874G>A (p.Gly292Ser) rs199473085 0.00002
NM_000335.5(SCN5A):c.*1731G>C rs569249327 0.00001
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn) rs779687673 0.00001
NM_000335.5(SCN5A):c.1050C>T (p.His350=) rs587781160 0.00001
NM_000335.5(SCN5A):c.1051G>A (p.Gly351Ser) rs201276017 0.00001
NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565 0.00001
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097 0.00001
NM_000335.5(SCN5A):c.1100G>A (p.Arg367His) rs28937318 0.00001
NM_000335.5(SCN5A):c.1345A>G (p.Thr449Ala) rs199473571 0.00001
NM_000335.5(SCN5A):c.1446G>A (p.Met482Ile) rs1212816065 0.00001
NM_000335.5(SCN5A):c.1517T>A (p.Met506Lys) rs760531609 0.00001
NM_000335.5(SCN5A):c.154C>T (p.Pro52Ser) rs199473553 0.00001
NM_000335.5(SCN5A):c.1561A>G (p.Lys521Glu) rs201840288 0.00001
NM_000335.5(SCN5A):c.1595T>G (p.Phe532Cys) rs199473573 0.00001
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124 0.00001
NM_000335.5(SCN5A):c.1705C>T (p.Arg569Trp) rs199473576 0.00001
NM_000335.5(SCN5A):c.1707G>C (p.Arg569=) rs747600514 0.00001
NM_000335.5(SCN5A):c.1776C>G (p.Asn592Lys) rs199473130 0.00001
NM_000335.5(SCN5A):c.1868T>C (p.Met623Thr) rs775045819 0.00001
NM_000335.5(SCN5A):c.1891-5C>T rs749081972 0.00001
NM_000335.5(SCN5A):c.1895C>T (p.Thr632Met) rs199473134 0.00001
NM_000335.5(SCN5A):c.1927C>T (p.Leu643=) rs878855286 0.00001
NM_000335.5(SCN5A):c.193C>T (p.Pro65Ser) rs1202614416 0.00001
NM_000335.5(SCN5A):c.1940C>T (p.Ala647Val) rs185638763 0.00001
NM_000335.5(SCN5A):c.1981C>T (p.Arg661Trp) rs199473139 0.00001
NM_000335.5(SCN5A):c.2038C>T (p.Arg680Cys) rs376173627 0.00001
NM_000335.5(SCN5A):c.2047T>G (p.Cys683Gly) rs199473144 0.00001
NM_000335.5(SCN5A):c.2078G>A (p.Arg693His) rs373087176 0.00001
NM_000335.5(SCN5A):c.210T>G (p.Asn70Lys) rs199473050 0.00001
NM_000335.5(SCN5A):c.2114C>T (p.Ser705Phe) rs199473148 0.00001
NM_000335.5(SCN5A):c.2150C>T (p.Pro717Leu) rs199473149 0.00001
NM_000335.5(SCN5A):c.2236G>A (p.Glu746Lys) rs199473582 0.00001
NM_000335.5(SCN5A):c.2414C>T (p.Ser805Leu) rs767947088 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.2548G>A (p.Val850Met) rs911293694 0.00001
NM_000335.5(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171 0.00001
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His) rs199473172 0.00001
NM_000335.5(SCN5A):c.2708T>C (p.Met903Thr) rs1341909190 0.00001
NM_000335.5(SCN5A):c.316A>G (p.Ser106Gly) rs1331765859 0.00001
NM_000335.5(SCN5A):c.3388-4A>G rs1224411450 0.00001
NM_000335.5(SCN5A):c.3456G>C (p.Gln1152His) rs776705132 0.00001
NM_000335.5(SCN5A):c.3495C>T (p.Asp1165=) rs1358339064 0.00001
NM_000335.5(SCN5A):c.3534T>C (p.Cys1178=) rs771226633 0.00001
NM_000335.5(SCN5A):c.360C>T (p.Ile120=) rs587781158 0.00001
NM_000335.5(SCN5A):c.3659C>T (p.Ala1220Val) rs727503407 0.00001
NM_000335.5(SCN5A):c.376A>G (p.Lys126Glu) rs185492581 0.00001
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616 0.00001
NM_000335.5(SCN5A):c.3807C>T (p.Ala1269=) rs367927086 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 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.422T>A (p.Ile141Asn) rs772186966 0.00001
NM_000335.5(SCN5A):c.4349T>A (p.Val1450Asp) rs199473252 0.00001
NM_000335.5(SCN5A):c.4502G>C (p.Gly1501Ala) rs1230010586 0.00001
NM_000335.5(SCN5A):c.4570G>A (p.Val1524Met) rs199473269 0.00001
NM_000335.5(SCN5A):c.458C>T (p.Pro153Leu) rs1298498462 0.00001
NM_000335.5(SCN5A):c.4708T>C (p.Phe1570Leu) rs1369632373 0.00001
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691 0.00001
NM_000335.5(SCN5A):c.4806C>T (p.Ile1602=) rs769709544 0.00001
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met) rs199473282 0.00001
NM_000335.5(SCN5A):c.4883G>A (p.Arg1628Gln) rs199473623 0.00001
NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter) rs761505217 0.00001
NM_000335.5(SCN5A):c.4G>A (p.Ala2Thr) rs199473042 0.00001
NM_000335.5(SCN5A):c.5019T>C (p.Phe1673=) rs1174642559 0.00001
NM_000335.5(SCN5A):c.5034C>T (p.Phe1678=) rs867169736 0.00001
NM_000335.5(SCN5A):c.5065G>A (p.Asp1689Asn) rs1060499900 0.00001
NM_000335.5(SCN5A):c.5089G>A (p.Ala1697Thr) rs199473295 0.00001
NM_000335.5(SCN5A):c.508T>A (p.Phe170Ile) rs371651284 0.00001
NM_000335.5(SCN5A):c.5127G>A (p.Ser1709=) rs758998714 0.00001
NM_000335.5(SCN5A):c.5207G>A (p.Gly1736Asp) rs773130164 0.00001
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg) rs199473305 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000335.5(SCN5A):c.5494A>G (p.Ile1832Val) rs1559720461 0.00001
NM_000335.5(SCN5A):c.54G>A (p.Arg18=) rs1285580985 0.00001
NM_000335.5(SCN5A):c.554C>T (p.Ala185Val) rs199473067 0.00001
NM_000335.5(SCN5A):c.5559C>T (p.Leu1853=) rs758289489 0.00001
NM_000335.5(SCN5A):c.559A>G (p.Thr187Ala) rs869025517 0.00001
NM_000335.5(SCN5A):c.5772C>G (p.Ser1924=) rs199687668 0.00001
NM_000335.5(SCN5A):c.5800G>A (p.Gly1934Ser) rs199473637 0.00001
NM_000335.5(SCN5A):c.5808C>T (p.Ser1936=) rs754276826 0.00001
NM_000335.5(SCN5A):c.5888C>T (p.Ser1963Phe) rs199473332 0.00001
NM_000335.5(SCN5A):c.5900T>G (p.Ile1967Ser) rs199473639 0.00001
NM_000335.5(SCN5A):c.5965G>C (p.Val1989Leu) rs765885732 0.00001
NM_000335.5(SCN5A):c.5995G>T (p.Asp1999Tyr) rs764195092 0.00001
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=) rs538707712 0.00001
NM_000335.5(SCN5A):c.656G>A (p.Arg219His) rs878855296 0.00001
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln) rs199473071 0.00001
NM_000335.5(SCN5A):c.680T>C (p.Leu227Pro) rs760011764 0.00001
NM_000335.5(SCN5A):c.687T>C (p.Thr229=) rs770390440 0.00001
NM_000335.5(SCN5A):c.72C>T (p.Ile24=) rs727503412 0.00001
NM_000335.5(SCN5A):c.820G>A (p.Gly274Ser) rs794728852 0.00001
NM_000335.5(SCN5A):c.840C>T (p.Cys280=) rs72549413 0.00001
NM_000335.5(SCN5A):c.84G>A (p.Met28Ile) rs1284557438 0.00001
NM_000335.5(SCN5A):c.865G>A (p.Gly289Ser) rs199473084 0.00001
NM_000335.5(SCN5A):c.898G>A (p.Val300Ile) rs199473088 0.00001
NM_000335.5(SCN5A):c.916C>G (p.Leu306Val) rs748956841 0.00001
NM_000335.5(SCN5A):c.934+5G>A rs201672269 0.00001
NM_000335.5(SCN5A):c.944T>C (p.Leu315Pro) rs199473564 0.00001
NM_000335.5(SCN5A):c.959C>A (p.Thr320Asn) rs199473091 0.00001
NC_000003.11:g.(?_38591792)_(38593069_?)del
NC_000003.11:g.(?_38591802)_(38674808_?)del
NC_000003.11:g.(?_38591812)_(38593069_?)del
NC_000003.11:g.(?_38591812)_(38674798_?)dup
NC_000003.11:g.(?_38606513)_(38627513_?)del
NC_000003.11:g.(?_38616768)_(38649725_?)del
NC_000003.11:g.(?_38616778)_(38620996_?)del
NC_000003.11:g.(?_38627162)_(38627552_?)del
NC_000003.11:g.(?_38645197)_(38674804_?)dup
NC_000003.11:g.(?_38647422)_(38648321_?)del
NC_000003.11:g.(?_38655228)_(38663986_?)del
NC_000003.11:g.(?_38671792)_(38674808_?)del
NC_000003.11:g.(?_38674520)_(38674804_?)del
NC_000003.12:g.(?_38548062)_(38551558_?)del
NC_000003.12:g.(?_38585671)_(38604928_?)del
NC_000003.12:g.(?_38603692)_(38604928_?)del
NC_000003.12:g.(?_38609714)_(38609984_?)del
NC_000003.12:g.(?_38613743)_(38622489_?)del
NC_000003.12:g.(?_38633035)_(38633359_?)del
NM_000335.5(SCN5A):c.*1443C>A rs886058445
NM_000335.5(SCN5A):c.*1602G>T rs886058444
NM_000335.5(SCN5A):c.*1691G>T rs886058442
NM_000335.5(SCN5A):c.*1701G>T rs886058441
NM_000335.5(SCN5A):c.*1705C>T rs886058440
NM_000335.5(SCN5A):c.*1744C>G rs886058439
NM_000335.5(SCN5A):c.*1836A>T rs886058438
NM_000335.5(SCN5A):c.*1943C>A rs569552176
NM_000335.5(SCN5A):c.*2139_*2145AGG[2]GGAGAAGAGAGTAGGAAAAAGGAGGG[1] rs45592631
NM_000335.5(SCN5A):c.*2149G>A rs114517792
NM_000335.5(SCN5A):c.*296G>A rs886058456
NM_000335.5(SCN5A):c.*516G>T rs886058454
NM_000335.5(SCN5A):c.*634C>A rs886058453
NM_000335.5(SCN5A):c.*6G>T rs776980213
NM_000335.5(SCN5A):c.*725C>A rs886058451
NM_000335.5(SCN5A):c.*73C>A rs886058458
NM_000335.5(SCN5A):c.*980C>A rs886058449
NM_000335.5(SCN5A):c.-27_-15del
NM_000335.5(SCN5A):c.1007C>T (p.Pro336Leu) rs199473093
NM_000335.5(SCN5A):c.1015T>C (p.Tyr339His) rs2062023205
NM_000335.5(SCN5A):c.1037A>G (p.Glu346Gly) rs780735882
NM_000335.5(SCN5A):c.1047C>G (p.Asp349Glu)
NM_000335.5(SCN5A):c.104G>A (p.Gly35Asp) rs867508345
NM_000335.5(SCN5A):c.1052G>A (p.Gly351Asp) rs199473095
NM_000335.5(SCN5A):c.1052G>T (p.Gly351Val) rs199473095
NM_000335.5(SCN5A):c.1058C>T (p.Thr353Ile) rs199473096
NM_000335.5(SCN5A):c.1100G>T (p.Arg367Leu) rs28937318
NM_000335.5(SCN5A):c.1106T>A (p.Met369Lys) rs199473098
NM_000335.5(SCN5A):c.1120T>G (p.Trp374Gly) rs199473566
NM_000335.5(SCN5A):c.1156G>A (p.Gly386Arg) rs199473102
NM_000335.5(SCN5A):c.1157G>A (p.Gly386Glu) rs199473567
NM_000335.5(SCN5A):c.1167C>T (p.Tyr389=) rs794728854
NM_000335.5(SCN5A):c.1173C>A (p.Ile391=) rs961251585
NM_000335.5(SCN5A):c.1186G>C (p.Val396Leu) rs199473104
NM_000335.5(SCN5A):c.1187T>C (p.Val396Ala) rs199473103
NM_000335.5(SCN5A):c.1217A>G (p.Asn406Ser) rs199473568
NM_000335.5(SCN5A):c.1234del (p.Val412fs)
NM_000335.5(SCN5A):c.1315G>A (p.Glu439Lys) rs199473570
NM_000335.5(SCN5A):c.1355G>A (p.Gly452Asp) rs794728855
NM_000335.5(SCN5A):c.1388T>G (p.Met463Arg) rs761628195
NM_000335.5(SCN5A):c.141C>G (p.Pro47=) rs571894716
NM_000335.5(SCN5A):c.1428_1431del (p.Ser476fs) rs794728906
NM_000335.5(SCN5A):c.1502A>G (p.Asp501Gly) rs199473117
NM_000335.5(SCN5A):c.1538G>C (p.Arg513Pro) rs397517951
NM_000335.5(SCN5A):c.1559T>C (p.Met520Thr) rs930772073
NM_000335.5(SCN5A):c.1564C>T (p.Pro522Ser) rs768922716
NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_000335.5(SCN5A):c.1613G>T (p.Gly538Val) rs779486899
NM_000335.5(SCN5A):c.1629T>A (p.Phe543Leu) rs199473122
NM_000335.5(SCN5A):c.1651G>A (p.Ala551Thr) rs199473574
NM_000335.5(SCN5A):c.1654G>A (p.Gly552Arg) rs3918389
NM_000335.5(SCN5A):c.168G>A (p.Leu56=) rs376742447
NM_000335.5(SCN5A):c.1710C>G (p.Thr570=) rs1060504150
NM_000335.5(SCN5A):c.1728C>G (p.Pro576=) rs1575800832
NM_000335.5(SCN5A):c.1728C>T (p.Pro576=) rs1575800832
NM_000335.5(SCN5A):c.1756G>A (p.Ala586Thr) rs199473129
NM_000335.5(SCN5A):c.1768A>C (p.Lys590Gln) rs1060501143
NM_000335.5(SCN5A):c.1812G>T (p.Leu604=) rs1575800407
NM_000335.5(SCN5A):c.1820G>A (p.Gly607Asp) rs757119370
NM_000335.5(SCN5A):c.1863T>C (p.Pro621=) rs1575800173
NM_000335.5(SCN5A):c.1870C>A (p.Leu624Ile) rs886058463
NM_000335.5(SCN5A):c.1892C>T (p.Thr631Ile) rs2061880786
NM_000335.5(SCN5A):c.1913G>A (p.Gly638Asp) rs199473578
NM_000335.5(SCN5A):c.1918C>G (p.Pro640Ala) rs199473137
NM_000335.5(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_000335.5(SCN5A):c.1940C>A (p.Ala647Asp) rs185638763
NM_000335.5(SCN5A):c.1960G>A (p.Glu654Lys) rs199473138
NM_000335.5(SCN5A):c.19C>T (p.Pro7Ser) rs933949794
NM_000335.5(SCN5A):c.2042A>C (p.His681Pro) rs199473143
NM_000335.5(SCN5A):c.2164A>G (p.Thr722Ala)
NM_000335.5(SCN5A):c.2203G>A (p.Ala735Thr) rs199473151
NM_000335.5(SCN5A):c.2204C>A (p.Ala735Glu) rs137854611
NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
NM_000335.5(SCN5A):c.2254G>A (p.Gly752Arg) rs199473153
NM_000335.5(SCN5A):c.2257A>C (p.Asn753His) rs2061854296
NM_000335.5(SCN5A):c.2259C>A (p.Asn753Lys) rs878911306
NM_000335.5(SCN5A):c.2273G>A (p.Gly758Glu) rs199473154
NM_000335.5(SCN5A):c.2291T>G (p.Met764Arg) rs199473156
NM_000335.5(SCN5A):c.2294C>T (p.Thr765Ile) rs2061688177
NM_000335.5(SCN5A):c.2317C>T (p.Pro773Ser) rs199473158
NM_000335.5(SCN5A):c.2318C>G (p.Pro773Arg) rs2061687716
NM_000335.5(SCN5A):c.2352C>T (p.Phe784=) rs1418584830
NM_000335.5(SCN5A):c.2399G>T (p.Arg800Leu) rs566251672
NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter) rs1553700699
NM_000335.5(SCN5A):c.2504C>T (p.Ser835Leu) rs199473163
NM_000335.5(SCN5A):c.250G>A (p.Asp84Asn) rs199473051
NM_000335.5(SCN5A):c.2516T>C (p.Leu839Pro) rs199473164
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.2551T>C (p.Phe851Leu) rs199473586
NM_000335.5(SCN5A):c.255del (p.Phe86fs) rs727503411
NM_000335.5(SCN5A):c.2582_2583del (p.Phe861fs) rs794728914
NM_000335.5(SCN5A):c.2599G>C (p.Glu867Gln) rs199473167
NM_000335.5(SCN5A):c.2632C>T (p.Arg878Cys) rs199473168
NM_000335.5(SCN5A):c.2633G>A (p.Arg878His) rs199473587
NM_000335.5(SCN5A):c.2648A>G (p.Asp883Gly) rs1575769807
NM_000335.5(SCN5A):c.2674T>A (p.Phe892Ile) rs199473170
NM_000335.5(SCN5A):c.2686T>A (p.Cys896Ser) rs199473173
NM_000335.5(SCN5A):c.2701G>A (p.Glu901Lys) rs199473174
NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu) rs199473175
NM_000335.5(SCN5A):c.272A>T (p.Lys91Met)
NM_000335.5(SCN5A):c.274-25_274-24delinsAT rs386660280
NM_000335.5(SCN5A):c.2742del (p.Leu914fs) rs2061654524
NM_000335.5(SCN5A):c.2743T>C (p.Cys915Arg) rs199473588
NM_000335.5(SCN5A):c.2750T>G (p.Leu917Arg) rs199473176
NM_000335.5(SCN5A):c.2768T>C (p.Met923Thr) rs2061653830
NM_000335.5(SCN5A):c.2780A>G (p.Asn927Ser) rs199473589
NM_000335.5(SCN5A):c.2781C>T (p.Asn927=) rs762246339
NM_000335.5(SCN5A):c.2783T>C (p.Leu928Pro) rs199473178
NM_000335.5(SCN5A):c.278T>C (p.Phe93Ser) rs199473052
NM_000335.5(SCN5A):c.281T>G (p.Ile94Ser) rs199473053
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile) rs199473054
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.5(SCN5A):c.311G>A (p.Arg104Gln) rs199473554
NM_000335.5(SCN5A):c.327C>A (p.Asn109Lys) rs199473056
NM_000335.5(SCN5A):c.3388A>C (p.Thr1130Pro) rs371469522
NM_000335.5(SCN5A):c.3409G>A (p.Glu1137Lys) rs760339455
NM_000335.5(SCN5A):c.3416G>C (p.Ser1139Thr) rs199473199
NM_000335.5(SCN5A):c.342C>T (p.Leu114=) rs879094574
NM_000335.5(SCN5A):c.3491A>T (p.Glu1164Val) rs2061491992
NM_000335.5(SCN5A):c.3509G>A (p.Gly1170Asp) rs878855289
NM_000335.5(SCN5A):c.351C>G (p.Phe117Leu) rs2125931653
NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter) rs1237724419
NM_000335.5(SCN5A):c.3609C>T (p.His1203=) rs767617297
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.5(SCN5A):c.3624A>T (p.Thr1208=) rs1575748730
NM_000335.5(SCN5A):c.3627C>T (p.Phe1209=) rs962909965
NM_000335.5(SCN5A):c.362G>A (p.Arg121Gln) rs199473058
NM_000335.5(SCN5A):c.3630C>T (p.Ile1210=) rs1267986781
NM_000335.5(SCN5A):c.3653G>A (p.Ser1218Asn) rs199473597
NM_000335.5(SCN5A):c.3679T>C (p.Tyr1227His) rs199473205
NM_000335.5(SCN5A):c.3691C>T (p.Arg1231Trp) rs199473207
NM_000335.5(SCN5A):c.3704A>G (p.Lys1235Arg) rs199473209
NM_000335.5(SCN5A):c.3705G>T (p.Lys1235Asn) rs199473208
NM_000335.5(SCN5A):c.3713T>C (p.Leu1238Pro) rs199473210
NM_000335.5(SCN5A):c.3726C>G (p.Asp1242Glu) rs1559738468
NM_000335.5(SCN5A):c.3743T>A (p.Val1248Asp) rs199473213
NM_000335.5(SCN5A):c.3747C>G (p.Phe1249Leu) rs756102773
NM_000335.5(SCN5A):c.3755A>G (p.Glu1252Gly) rs199473214
NM_000335.5(SCN5A):c.3788A>G (p.Lys1263Arg) rs1183090563
NM_000335.5(SCN5A):c.3789G>C (p.Lys1263Asn) rs762237208
NM_000335.5(SCN5A):c.3810G>C (p.Trp1270Cys) rs199473601
NM_000335.5(SCN5A):c.3821A>G (p.Asp1274Gly) rs2125849528
NM_000335.5(SCN5A):c.3838G>T (p.Val1280Phe) rs199473602
NM_000335.5(SCN5A):c.3860C>G (p.Ala1287Gly) rs199473217
NM_000335.5(SCN5A):c.3898del (p.Ser1300fs) rs2061270021
NM_000335.5(SCN5A):c.3904C>A (p.Arg1302=) rs200334972
NM_000335.5(SCN5A):c.3913C>A (p.Arg1305Ser) rs1403211358
NM_000335.5(SCN5A):c.392+3A>G rs2062503289
NM_000335.5(SCN5A):c.3925C>T (p.Pro1309Ser) rs2061269221
NM_000335.5(SCN5A):c.3929T>C (p.Leu1310Pro) rs199473219
NM_000335.5(SCN5A):c.3960+1G>A rs483353016
NM_000335.5(SCN5A):c.3965T>G (p.Val1322Gly) rs199473221
NM_000335.5(SCN5A):c.3992C>T (p.Pro1331Leu) rs199473225
NM_000335.5(SCN5A):c.3997A>G (p.Ile1333Val) rs199473226
NM_000335.5(SCN5A):c.3G>A (p.Met1Ile) rs199473550
NM_000335.5(SCN5A):c.4001T>G (p.Met1334Arg) rs1343676000
NM_000335.5(SCN5A):c.4027T>C (p.Phe1343Leu) rs199473228
NM_000335.5(SCN5A):c.4028T>C (p.Phe1343Ser) rs199473229
NM_000335.5(SCN5A):c.4032G>T (p.Trp1344Cys) rs199473606
NM_000335.5(SCN5A):c.4033C>A (p.Leu1345Ile) rs199473230
NM_000335.5(SCN5A):c.4034T>C (p.Leu1345Pro) rs199473231
NM_000335.5(SCN5A):c.4044C>T (p.Ser1348=) rs1575725164
NM_000335.5(SCN5A):c.4046T>C (p.Ile1349Thr) rs199473607
NM_000335.5(SCN5A):c.4049T>G (p.Met1350Arg) rs199473232
NM_000335.5(SCN5A):c.4069G>T (p.Gly1357Trp) rs199473234
NM_000335.5(SCN5A):c.4073A>T (p.Lys1358Met) rs758959053
NM_000335.5(SCN5A):c.4074G>T (p.Lys1358Asn) rs199473235
NM_000335.5(SCN5A):c.4076T>G (p.Phe1359Cys) rs199473236
NM_000335.5(SCN5A):c.407T>C (p.Leu136Pro) rs199473557
NM_000335.5(SCN5A):c.4085G>A (p.Cys1362Tyr) rs199473237
NM_000335.5(SCN5A):c.4137C>G (p.Asn1379Lys) rs199473238
NM_000335.5(SCN5A):c.4142G>T (p.Ser1381Ile) rs199473608
NM_000335.5(SCN5A):c.4179del (p.Trp1394fs) rs2061229370
NM_000335.5(SCN5A):c.4210G>A (p.Val1404Met) rs199473239
NM_000335.5(SCN5A):c.4210G>C (p.Val1404Leu) rs199473239
NM_000335.5(SCN5A):c.4213G>A (p.Gly1405Arg) rs199473240
NM_000335.5(SCN5A):c.4214G>A (p.Gly1405Glu) rs199473609
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.4223A>G (p.Tyr1408Cys) rs199473610
NM_000335.5(SCN5A):c.4231C>T (p.Leu1411Phe) rs199473241
NM_000335.5(SCN5A):c.4242+8C>T rs878855290
NM_000335.5(SCN5A):c.4243-2A>G rs1575719863
NM_000335.5(SCN5A):c.4252A>G (p.Lys1418Glu) rs199473242
NM_000335.5(SCN5A):c.4255G>C (p.Gly1419Arg) rs199473611
NM_000335.5(SCN5A):c.4256G>T (p.Gly1419Val) rs199473243
NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn) rs746291609
NM_000335.5(SCN5A):c.4276G>T (p.Ala1426Ser) rs199473244
NM_000335.5(SCN5A):c.4280C>T (p.Ala1427Val) rs199473612
NM_000335.5(SCN5A):c.4291A>G (p.Arg1431Gly) rs199473245
NM_000335.5(SCN5A):c.4295G>T (p.Gly1432Val) rs199473247
NM_000335.5(SCN5A):c.4296+9C>A rs572950088
NM_000335.5(SCN5A):c.4308G>A (p.Gln1436=) rs1575718543
NM_000335.5(SCN5A):c.4310C>T (p.Pro1437Leu) rs199473248
NM_000335.5(SCN5A):c.4313dup (p.Trp1439fs) rs2125835486
NM_000335.5(SCN5A):c.4318G>C (p.Glu1440Gln) rs199473249
NM_000335.5(SCN5A):c.4326C>A (p.Asn1442Lys) rs1575718424
NM_000335.5(SCN5A):c.4340T>C (p.Ile1447Thr) rs199473251
NM_000335.5(SCN5A):c.4343A>G (p.Tyr1448Cys) rs199473613
NM_000335.5(SCN5A):c.4348G>C (p.Val1450Leu) rs876657996
NM_000335.5(SCN5A):c.4384A>T (p.Asn1462Tyr) rs199473614
NM_000335.5(SCN5A):c.4399G>T (p.Val1467Phe) rs199473254
NM_000335.5(SCN5A):c.4434+6T>C rs2125835168
NM_000335.5(SCN5A):c.4471AAG[1] (p.Lys1492del) rs869025522
NM_000335.5(SCN5A):c.4477T>A (p.Tyr1493Asn) rs199473261
NM_000335.5(SCN5A):c.44G>T (p.Arg15Met) rs373410109
NM_000335.5(SCN5A):c.4500G>T (p.Leu1500=) rs767615184
NM_000335.5(SCN5A):c.4501G>A (p.Gly1501Ser) rs199473267
NM_000335.5(SCN5A):c.4559T>A (p.Ile1520Lys) rs199473617
NM_000335.5(SCN5A):c.4577A>G (p.Lys1526Arg) rs199473270
NM_000335.5(SCN5A):c.4614C>T (p.Cys1538=) rs1227371604
NM_000335.5(SCN5A):c.4638G>T (p.Val1546=) rs878855291
NM_000335.5(SCN5A):c.4654A>C (p.Ser1552Arg) rs199473272
NM_000335.5(SCN5A):c.4694_4695delinsAA (p.Leu1565Gln) rs2061096389
NM_000335.5(SCN5A):c.4695C>T (p.Leu1565=) rs727505094
NM_000335.5(SCN5A):c.4702G>C (p.Ala1568Pro) rs199473273
NM_000335.5(SCN5A):c.4709T>G (p.Phe1570Cys) rs199473274
NM_000335.5(SCN5A):c.4717G>A (p.Glu1573Lys) rs199473620
NM_000335.5(SCN5A):c.4735G>T (p.Ala1579Ser) rs2125830627
NM_000335.5(SCN5A):c.4742T>C (p.Leu1581Pro) rs199473275
NM_000335.5(SCN5A):c.4743G>C (p.Leu1581=) rs1575711581
NM_000335.5(SCN5A):c.4769G>A (p.Trp1590Ter) rs863225273
NM_000335.5(SCN5A):c.4810+4G>A rs1011460663
NM_000335.5(SCN5A):c.4810+5G>A rs2125830430
NM_000335.5(SCN5A):c.4811-3C>T
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys) rs199473062
NM_000335.5(SCN5A):c.481G>C (p.Glu161Gln) rs199473062
NM_000335.5(SCN5A):c.4828A>G (p.Ile1610Val) rs1162100839
NM_000335.5(SCN5A):c.483-1G>A rs794728846
NM_000335.5(SCN5A):c.4835A>T (p.Gln1612Leu) rs199473281
NM_000335.5(SCN5A):c.4842_4844delinsGTA (p.Tyr1614_Phe1615delinsTer) rs863224533
NM_000335.5(SCN5A):c.4882C>G (p.Arg1628Gly) rs199473284
NM_000335.5(SCN5A):c.4922G>A (p.Gly1641Glu) rs199473624
NM_000335.5(SCN5A):c.4943C>T (p.Ala1648Val) rs199473289
NM_000335.5(SCN5A):c.4978G>A (p.Gly1660Arg) rs199473292
NM_000335.5(SCN5A):c.4978G>C (p.Gly1660Arg) rs199473292
NM_000335.5(SCN5A):c.5012C>A (p.Ser1671Tyr) rs199473626
NM_000335.5(SCN5A):c.5105_5106delinsTT (p.Cys1702Phe) rs2125826517
NM_000335.5(SCN5A):c.5115G>C (p.Gln1705His) rs199473296
NM_000335.5(SCN5A):c.5123C>G (p.Thr1708Arg) rs199473297
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met) rs199473297
NM_000335.5(SCN5A):c.5131G>A (p.Gly1711Ser) rs199473298
NM_000335.5(SCN5A):c.5138A>G (p.Asp1713Gly) rs199473628
NM_000335.5(SCN5A):c.5151C>G (p.Ser1717Arg) rs778490062
NM_000335.5(SCN5A):c.5161A>G (p.Asn1721Asp) rs199473299
NM_000335.5(SCN5A):c.5163C>T (p.Asn1721=) rs1575705969
NM_000335.5(SCN5A):c.5179T>C (p.Cys1727Arg) rs199473302
NM_000335.5(SCN5A):c.5181C>G (p.Cys1727Trp) rs193922726
NM_000335.5(SCN5A):c.5215G>A (p.Gly1739Arg) rs199473304
NM_000335.5(SCN5A):c.5225G>A (p.Gly1742Glu) rs199473629
NM_000335.5(SCN5A):c.5228G>C (p.Ser1743Thr) rs794728895
NM_000335.5(SCN5A):c.525G>C (p.Lys175Asn) rs199473063
NM_000335.5(SCN5A):c.5263ATC[2] (p.Ile1757del) rs1575705549
NM_000335.5(SCN5A):c.5269A>G (p.Ile1757Val) rs1325549884
NM_000335.5(SCN5A):c.5287G>T (p.Val1763Phe) rs199473309
NM_000335.5(SCN5A):c.5318A>G (p.Asn1773Ser) rs199473313
NM_000335.5(SCN5A):c.533C>G (p.Ala178Gly) rs199473065
NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter) rs1480085793
NM_000335.5(SCN5A):c.5361G>A (p.Glu1787=) rs1575705184
NM_000335.5(SCN5A):c.5380T>C (p.Tyr1794His) rs137854615
NM_000335.5(SCN5A):c.544T>C (p.Cys182Arg) rs199473066
NM_000335.5(SCN5A):c.5454_5455inv (p.Ala1819Thr)
NM_000335.5(SCN5A):c.5472C>T (p.Leu1824=) rs1253336819
NM_000335.5(SCN5A):c.5529T>C (p.Ser1843=) rs1575704476
NM_000335.5(SCN5A):c.5541C>T (p.Ile1847=) rs1575704426
NM_000335.5(SCN5A):c.5546G>C (p.Cys1849Ser) rs199473322
NM_000335.5(SCN5A):c.5576G>A (p.Arg1859Lys) rs1559720220
NM_000335.5(SCN5A):c.5578G>A (p.Val1860Ile) rs199473636
NM_000335.5(SCN5A):c.5587G>A (p.Glu1863Lys) rs1060501129
NM_000335.5(SCN5A):c.560C>T (p.Thr187Ile) rs199473558
NM_000335.5(SCN5A):c.5613G>C (p.Lys1871Asn) rs199473323
NM_000335.5(SCN5A):c.5684_5685del (p.Leu1895fs) rs770059377
NM_000335.5(SCN5A):c.5705T>C (p.Val1902Ala) rs2125825024
NM_000335.5(SCN5A):c.5708C>G (p.Ser1903Trp) rs150264233
NM_000335.5(SCN5A):c.5723A>G (p.Gln1908Arg) rs199473326
NM_000335.5(SCN5A):c.576A>G (p.Pro192=) rs1227394755
NM_000335.5(SCN5A):c.5801_5802dup (p.Leu1935fs) rs2125824738
NM_000335.5(SCN5A):c.5822_5823del (p.Pro1941fs) rs1553692416
NM_000335.5(SCN5A):c.5823T>G (p.Pro1941=) rs2125824674
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.5910T>C (p.Thr1970=) rs972777761
NM_000335.5(SCN5A):c.5942G>T (p.Arg1981Ile) rs774432823
NM_000335.5(SCN5A):c.6014del (p.Pro2005fs)
NM_000335.5(SCN5A):c.6030C>A (p.Asp2010Glu) rs886058459
NM_000335.5(SCN5A):c.611C>T (p.Ala204Val) rs199473559
NM_000335.5(SCN5A):c.635T>A (p.Leu212Gln) rs199473070
NM_000335.5(SCN5A):c.667G>C (p.Val223Leu) rs199473560
NM_000335.5(SCN5A):c.681G>A (p.Leu227=) rs369623575
NM_000335.5(SCN5A):c.688A>G (p.Ile230Val) rs199473074
NM_000335.5(SCN5A):c.704-2A>G rs1553705586
NM_000335.5(SCN5A):c.726C>T (p.Ala242=) rs746812420
NM_000335.5(SCN5A):c.784A>C (p.Ser262Arg) rs777689378
NM_000335.5(SCN5A):c.802G>T (p.Gly268Cys) rs750990576
NM_000335.5(SCN5A):c.808C>A (p.Gln270Lys) rs199473079
NM_000335.5(SCN5A):c.827T>A (p.Leu276Gln) rs199473081
NM_000335.5(SCN5A):c.832C>G (p.His278Asp) rs199473562
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_000335.5(SCN5A):c.883G>A (p.Glu295Lys) rs762283891
NM_000335.5(SCN5A):c.935-3C>G rs766127222
NM_000335.5(SCN5A):c.951G>C (p.Lys317Asn) rs199473089
NM_000335.5(SCN5A):c.95A>G (p.Gln32Arg) rs1553607617
NM_000335.5(SCN5A):c.974T>G (p.Leu325Arg) rs199473092
NM_001160160.2(SCN5A):c.4714+95GGGT[3]

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