ClinVar Miner

List of variants in gene SCN5A reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 200
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.935-241C>T rs41312437 0.01654
NM_000335.5(SCN5A):c.4811-201C>A rs115452263 0.01585
NM_000335.5(SCN5A):c.4243-156A>T rs41313027 0.01493
NM_000335.5(SCN5A):c.*1165C>T rs41313017 0.01492
NM_000335.5(SCN5A):c.*159C>T rs41313019 0.01171
NM_000335.5(SCN5A):c.3838-298G>A rs144469166 0.01128
NM_000335.5(SCN5A):c.483-265C>T rs45600536 0.01109
NM_000335.5(SCN5A):c.1890+50C>T rs9827213 0.00996
NM_000335.5(SCN5A):c.2262+173G>A rs146835990 0.00952
NM_000335.5(SCN5A):c.4811-79dup rs1553693111 0.00933
NM_000335.5(SCN5A):c.1519-225G>C rs41312429 0.00902
NM_000335.5(SCN5A):c.611+237G>A rs75421707 0.00881
NM_000335.5(SCN5A):c.3388-274T>C rs41310771 0.00872
NM_000335.5(SCN5A):c.*614G>A rs41315491 0.00841
NM_000335.5(SCN5A):c.2436+136C>G rs148133081 0.00841
NM_000335.5(SCN5A):c.1891-236G>T rs41313683 0.00835
NM_000335.5(SCN5A):c.2787+158A>T rs370280828 0.00790
NM_000335.5(SCN5A):c.4539+278C>A rs115671206 0.00756
NM_000335.5(SCN5A):c.*1164G>T rs41315489 0.00746
NM_000335.5(SCN5A):c.2787+53C>A rs76703704 0.00676
NM_000335.5(SCN5A):c.611+174G>A rs111986733 0.00673
NM_000335.5(SCN5A):c.998+107G>A rs116833858 0.00654
NM_000335.5(SCN5A):c.-53+114_-53+116dup rs41314778 0.00602
NM_000335.5(SCN5A):c.*1496T>G rs41313015 0.00573
NM_000335.5(SCN5A):c.3960+268G>A rs115153868 0.00503
NM_000335.5(SCN5A):c.2787+209T>C rs142153407 0.00440
NM_000335.5(SCN5A):c.3960+158G>A rs187798485 0.00432
NM_000335.5(SCN5A):c.935-46C>G rs41312435 0.00401
NM_000335.5(SCN5A):c.1141-205C>T rs114215035 0.00369
NM_000335.5(SCN5A):c.2436+150C>T rs114516541 0.00350
NM_000335.5(SCN5A):c.2787+155T>C rs115734235 0.00350
NM_000335.5(SCN5A):c.3388-170C>T rs45626031 0.00334
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304 0.00178
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199 0.00109
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser) rs61746118 0.00089
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_000335.5(SCN5A):c.895T>A (p.Leu299Met) rs199473087 0.00053
NM_000335.5(SCN5A):c.1335C>T (p.His445=) rs368045716 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.3748G>A (p.Val1250Met) rs199473600 0.00038
NM_000335.5(SCN5A):c.456C>T (p.Asp152=) rs190803993 0.00031
NM_000335.5(SCN5A):c.3388-16A>T rs376625229 0.00029
NM_000335.5(SCN5A):c.3837+8T>C rs372405305 0.00027
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331 0.00026
NM_000335.5(SCN5A):c.496G>A (p.Ala166Thr) rs201232332 0.00023
NM_000335.5(SCN5A):c.4591G>A (p.Val1531Ile) rs199473618 0.00021
NM_000335.5(SCN5A):c.1339-20G>A rs368668274 0.00019
NM_000335.5(SCN5A):c.80G>A (p.Arg27His) rs199473045 0.00017
NM_000335.5(SCN5A):c.5334G>A (p.Thr1778=) rs41311121 0.00016
NM_000335.5(SCN5A):c.5478C>T (p.Ile1826=) rs138892850 0.00016
NM_000335.5(SCN5A):c.1891-8G>A rs12720064 0.00013
NM_000335.5(SCN5A):c.4779C>T (p.Phe1593=) rs376720757 0.00013
NM_000335.5(SCN5A):c.4167C>T (p.Thr1389=) rs747356664 0.00012
NM_000335.5(SCN5A):c.4524C>T (p.Pro1508=) rs369404890 0.00012
NM_000335.5(SCN5A):c.4908C>T (p.Ile1636=) rs200569112 0.00012
NM_000335.5(SCN5A):c.5088C>T (p.Phe1696=) rs762929897 0.00011
NM_000335.5(SCN5A):c.5130C>T (p.Ala1710=) rs377478501 0.00011
NM_000335.5(SCN5A):c.*1G>A rs375282305 0.00010
NM_000335.5(SCN5A):c.5397A>G (p.Lys1799=) rs140641458 0.00010
NM_000335.5(SCN5A):c.5556T>C (p.Ile1852=) rs188792047 0.00010
NM_000335.5(SCN5A):c.2103G>A (p.Pro701=) rs564847999 0.00009
NM_000335.5(SCN5A):c.3951G>A (p.Glu1317=) rs769473892 0.00009
NM_000335.5(SCN5A):c.5109C>T (p.Leu1703=) rs369975417 0.00009
NM_000335.5(SCN5A):c.934+4C>T rs182050752 0.00009
NM_000335.5(SCN5A):c.2268C>T (p.Phe756=) rs372271677 0.00008
NM_000335.5(SCN5A):c.3536C>T (p.Ala1179Val) rs41310765 0.00008
NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu) rs199473638 0.00008
NM_000335.5(SCN5A):c.873C>T (p.Asn291=) rs376515775 0.00008
NM_000335.5(SCN5A):c.3960+17C>T rs779095465 0.00007
NM_000335.5(SCN5A):c.990T>G (p.Ser330=) rs779310644 0.00007
NM_000335.5(SCN5A):c.993C>T (p.Asp331=) rs757715398 0.00007
NM_000335.5(SCN5A):c.*6G>A rs776980213 0.00006
NM_000335.5(SCN5A):c.1662C>T (p.Ser554=) rs536201762 0.00006
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=) rs200868190 0.00006
NM_000335.5(SCN5A):c.4401C>T (p.Val1467=) rs766197312 0.00006
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044 0.00006
NM_000335.5(SCN5A):c.228C>T (p.Ile76=) rs767641205 0.00005
NM_000335.5(SCN5A):c.-37C>T rs147553730 0.00004
NM_000335.5(SCN5A):c.1575C>T (p.Ser525=) rs370684004 0.00004
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=) rs878911306 0.00004
NM_000335.5(SCN5A):c.4122C>T (p.Tyr1374=) rs550389164 0.00004
NM_000335.5(SCN5A):c.4293G>A (p.Arg1431=) rs199473246 0.00004
NM_000335.5(SCN5A):c.4435-10C>T rs747594441 0.00004
NM_000335.5(SCN5A):c.4977C>T (p.Ile1659=) rs752079563 0.00004
NM_000335.5(SCN5A):c.5643C>T (p.Ala1881=) rs370423367 0.00004
NM_000335.5(SCN5A):c.864C>T (p.Asn288=) rs373728726 0.00004
NM_000335.5(SCN5A):c.2364C>T (p.Ile788=) rs183177363 0.00003
NM_000335.5(SCN5A):c.2700C>T (p.Ile900=) rs202103107 0.00003
NM_000335.5(SCN5A):c.2745C>T (p.Cys915=) rs372782494 0.00003
NM_000335.5(SCN5A):c.3388-3T>C rs949932623 0.00003
NM_000335.5(SCN5A):c.3508+11G>A rs200058362 0.00003
NM_000335.5(SCN5A):c.4128C>T (p.Ile1376=) rs769790752 0.00003
NM_000335.5(SCN5A):c.4746C>G (p.Arg1582=) rs879239753 0.00003
NM_000335.5(SCN5A):c.483-16G>A rs1228212119 0.00003
NM_000335.5(SCN5A):c.4864C>A (p.Arg1622=) rs137854613 0.00003
NM_000335.5(SCN5A):c.4914G>A (p.Gly1638=) rs1419998623 0.00003
NM_000335.5(SCN5A):c.5124G>A (p.Thr1708=) rs747409815 0.00003
NM_000335.5(SCN5A):c.801C>T (p.Ile267=) rs45587735 0.00003
NM_000335.5(SCN5A):c.*5C>T rs762103625 0.00002
NM_000335.5(SCN5A):c.1308G>A (p.Glu436=) rs555224775 0.00002
NM_000335.5(SCN5A):c.1764T>C (p.His588=) rs775985491 0.00002
NM_000335.5(SCN5A):c.1944G>A (p.Pro648=) rs773792853 0.00002
NM_000335.5(SCN5A):c.2014G>A (p.Ala672Thr) rs199473140 0.00002
NM_000335.5(SCN5A):c.3408C>T (p.Ser1136=) rs553231555 0.00002
NM_000335.5(SCN5A):c.3795C>T (p.Tyr1265=) rs371610895 0.00002
NM_000335.5(SCN5A):c.4695C>G (p.Leu1565=) rs727505094 0.00002
NM_000335.5(SCN5A):c.4719G>A (p.Glu1573=) rs1057523731 0.00002
NM_000335.5(SCN5A):c.4857G>A (p.Thr1619=) rs753174463 0.00002
NM_000335.5(SCN5A):c.495C>T (p.Thr165=) rs62242804 0.00002
NM_000335.5(SCN5A):c.5697C>T (p.His1899=) rs376361103 0.00002
NM_000335.5(SCN5A):c.5960T>G (p.Leu1987Arg) rs145009013 0.00002
NM_000335.5(SCN5A):c.6027G>A (p.Arg2009=) rs764556359 0.00002
NM_000335.5(SCN5A):c.1200G>A (p.Gly400=) rs969985456 0.00001
NM_000335.5(SCN5A):c.1638T>C (p.Asp546=) rs771534167 0.00001
NM_000335.5(SCN5A):c.1707G>C (p.Arg569=) rs747600514 0.00001
NM_000335.5(SCN5A):c.1806A>G (p.Ser602=) rs745643129 0.00001
NM_000335.5(SCN5A):c.1851C>T (p.His617=) rs759765699 0.00001
NM_000335.5(SCN5A):c.237C>T (p.Pro79=) rs763419960 0.00001
NM_000335.5(SCN5A):c.270A>G (p.Gln90=) rs758314302 0.00001
NM_000335.5(SCN5A):c.274-6C>T rs1057522479 0.00001
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile) rs199473177 0.00001
NM_000335.5(SCN5A):c.3660G>A (p.Ala1220=) rs1057522672 0.00001
NM_000335.5(SCN5A):c.369G>A (p.Ala123=) rs727504886 0.00001
NM_000335.5(SCN5A):c.4005C>T (p.Asn1335=) rs746892102 0.00001
NM_000335.5(SCN5A):c.4212G>T (p.Val1404=) rs753456813 0.00001
NM_000335.5(SCN5A):c.4218C>T (p.Ala1406=) rs373042738 0.00001
NM_000335.5(SCN5A):c.4243-4C>T rs772447988 0.00001
NM_000335.5(SCN5A):c.4434+17C>T rs1057523549 0.00001
NM_000335.5(SCN5A):c.4563C>T (p.Phe1521=) rs762357780 0.00001
NM_000335.5(SCN5A):c.4767C>T (p.Ser1589=) rs1412578044 0.00001
NM_000335.5(SCN5A):c.4890C>A (p.Gly1630=) rs762613910 0.00001
NM_000335.5(SCN5A):c.5127G>A (p.Ser1709=) rs758998714 0.00001
NM_000335.5(SCN5A):c.5325C>T (p.Ser1775=) rs1214009669 0.00001
NM_000335.5(SCN5A):c.5370C>T (p.Phe1790=) rs372380415 0.00001
NM_000335.5(SCN5A):c.5475T>A (p.Arg1825=) rs1057522618 0.00001
NM_000335.5(SCN5A):c.5508C>T (p.Asn1836=) rs1057521229 0.00001
NM_000335.5(SCN5A):c.5559C>T (p.Leu1853=) rs758289489 0.00001
NM_000335.5(SCN5A):c.5661C>T (p.Ser1887=) rs751914198 0.00001
NM_000335.5(SCN5A):c.5673C>T (p.Ile1891=) rs763463291 0.00001
NM_000335.5(SCN5A):c.5808C>T (p.Ser1936=) rs754276826 0.00001
NM_000335.5(SCN5A):c.5946C>T (p.Ala1982=) rs397517957 0.00001
NM_000335.5(SCN5A):c.6011C>T (p.Pro2004Leu) rs779649600 0.00001
NM_000335.5(SCN5A):c.744G>A (p.Lys248=) rs45453395 0.00001
NM_000335.5(SCN5A):c.840C>T (p.Cys280=) rs72549413 0.00001
NM_000335.5(SCN5A):c.857C>T (p.Ala286Val) rs778943853 0.00001
NM_000335.5(SCN5A):c.-52-3C>T rs1231354810
NM_000335.5(SCN5A):c.-65G>A rs45608739
NM_000335.5(SCN5A):c.1272C>T (p.Ile424=) rs267599794
NM_000335.5(SCN5A):c.1363A>G (p.Thr455Ala) rs794728904
NM_000335.5(SCN5A):c.1372C>T (p.Arg458Cys) rs752130196
NM_000335.5(SCN5A):c.1488G>A (p.Lys496=) rs1201401056
NM_000335.5(SCN5A):c.1572C>A (p.Ser524=) rs1553704216
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) rs730880211
NM_000335.5(SCN5A):c.1752C>G (p.Gly584=) rs1166588443
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del) rs397517953
NM_000335.5(SCN5A):c.1776C>T (p.Asn592=) rs199473130
NM_000335.5(SCN5A):c.2023+274_2023+276del rs200205270
NM_000335.5(SCN5A):c.2094G>A (p.Glu698=) rs1553703010
NM_000335.5(SCN5A):c.2211G>A (p.Glu737=) rs967241166
NM_000335.5(SCN5A):c.2262+33del rs41313677
NM_000335.5(SCN5A):c.2262+6G>A rs1553702911
NM_000335.5(SCN5A):c.2415G>A (p.Ser805=) rs754312452
NM_000335.5(SCN5A):c.2436+291_2436+295del rs151150318
NM_000335.5(SCN5A):c.2437-128_2437-127insGA rs63694161
NM_000335.5(SCN5A):c.2437-133_2437-132insT rs1553700775
NM_000335.5(SCN5A):c.2616C>T (p.Asp872=) rs1169423122
NM_000335.5(SCN5A):c.268C>A (p.Gln90Lys) rs794728839
NM_000335.5(SCN5A):c.303C>T (p.Thr101=) rs755973941
NM_000335.5(SCN5A):c.3468C>T (p.Leu1156=) rs570719978
NM_000335.5(SCN5A):c.3508+66_3508+86del rs543971509
NM_000335.5(SCN5A):c.373G>C (p.Val125Leu) rs199473059
NM_000335.5(SCN5A):c.3837+302G>A rs73070948
NM_000335.5(SCN5A):c.402C>T (p.Asn134=) rs762839397
NM_000335.5(SCN5A):c.4174T>C (p.Leu1392=) rs758836354
NM_000335.5(SCN5A):c.4242+19G>C rs530441663
NM_000335.5(SCN5A):c.4435-19T>C rs1057521235
NM_000335.5(SCN5A):c.4811-20G>C rs1040309022
NM_000335.5(SCN5A):c.4811-80C>A rs41313021
NM_000335.5(SCN5A):c.4811-80C>G rs41313021
NM_000335.5(SCN5A):c.4811-82_4811-81insCA rs151227746
NM_000335.5(SCN5A):c.4995C>T (p.Leu1665=) rs373091159
NM_000335.5(SCN5A):c.5109C>A (p.Leu1703=) rs369975417
NM_000335.5(SCN5A):c.5256C>T (p.Thr1752=) rs1553692850
NM_000335.5(SCN5A):c.5592T>G (p.Ser1864=) rs2125825248
NM_000335.5(SCN5A):c.5991T>C (p.Ser1997=) rs1057520490
NM_000335.5(SCN5A):c.6008T>C (p.Phe2003Ser) rs794728842
NM_000335.5(SCN5A):c.6014C>T (p.Pro2005Leu) rs199473338
NM_000335.5(SCN5A):c.611+16G>A rs1575830465
NM_000335.5(SCN5A):c.612-426A>T rs115612277
NM_000335.5(SCN5A):c.681G>A (p.Leu227=) rs369623575
NM_000335.5(SCN5A):c.703+6A>G rs781104838
NM_000335.5(SCN5A):c.714C>A (p.Thr238=) rs769388483
NM_000335.5(SCN5A):c.714C>T (p.Thr238=) rs769388483
NM_000335.5(SCN5A):c.748C>T (p.Leu250=) rs1559778838
NM_000335.5(SCN5A):c.852C>T (p.Phe284=) rs1049056998
NM_000335.5(SCN5A):c.858G>T (p.Ala286=) rs368460145

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