ClinVar Miner

Variants in gene SCN5A with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 140
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HGVS dbSNP gnomAD frequency
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.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00068
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942 0.00066
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.568C>G (p.Arg190Gly) rs199473068 0.00057
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
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.5491C>G (p.Gln1831Glu) rs199473320 0.00041
NM_000335.5(SCN5A):c.694G>A (p.Val232Ile) rs45471994 0.00041
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233 0.00040
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met) rs199473600 0.00038
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
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.1340C>G (p.Ala447Gly) rs199473113 0.00024
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.998+5G>A rs187531872 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.80G>A (p.Arg27His) rs199473045 0.00017
NM_000335.5(SCN5A):c.5334G>A (p.Thr1778=) rs41311121 0.00016
NM_000335.5(SCN5A):c.1891-8G>A rs12720064 0.00013
NM_000335.5(SCN5A):c.3837+12C>T rs368550655 0.00013
NM_000335.5(SCN5A):c.4908C>T (p.Ile1636=) rs200569112 0.00012
NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=) rs375752426 0.00011
NM_000335.5(SCN5A):c.*1G>A rs375282305 0.00010
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=) rs368980118 0.00010
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His) rs146848219 0.00009
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn) rs199473599 0.00009
NM_000335.5(SCN5A):c.4325A>G (p.Asn1442Ser) rs1473144775 0.00009
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278 0.00009
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.1336G>A (p.Glu446Lys) rs199473339 0.00007
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=) rs200868190 0.00006
NM_000335.5(SCN5A):c.393-5C>A rs368678204 0.00006
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044 0.00006
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn) rs137854619 0.00006
NM_000335.5(SCN5A):c.5828G>A (p.Arg1943Gln) rs767089602 0.00006
NM_000335.5(SCN5A):c.128G>A (p.Arg43Gln) rs199473047 0.00005
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg) rs199473128 0.00005
NM_000335.5(SCN5A):c.3664-7T>A rs373156650 0.00005
NM_000335.5(SCN5A):c.4811-5C>T rs765962519 0.00005
NM_000335.5(SCN5A):c.103G>A (p.Gly35Ser) rs199473552 0.00004
NM_000335.5(SCN5A):c.1914C>T (p.Gly638=) rs764488677 0.00004
NM_000335.5(SCN5A):c.1915G>A (p.Gly639Arg) rs199473136 0.00004
NM_000335.5(SCN5A):c.2102C>T (p.Pro701Leu) rs199473147 0.00004
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=) rs878911306 0.00004
NM_000335.5(SCN5A):c.3574C>T (p.Arg1192Trp) rs192379242 0.00004
NM_000335.5(SCN5A):c.435C>T (p.Cys145=) rs587781159 0.00004
NM_000335.5(SCN5A):c.43A>G (p.Arg15Gly) rs752553088 0.00004
NM_000335.5(SCN5A):c.4467G>A (p.Glu1489=) rs375026424 0.00004
NM_000335.5(SCN5A):c.53G>A (p.Arg18Gln) rs41311087 0.00004
NM_000335.5(SCN5A):c.5792C>T (p.Ala1931Val) rs371194826 0.00004
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
NM_000335.5(SCN5A):c.1558A>G (p.Met520Val) rs769799503 0.00003
NM_000335.5(SCN5A):c.21T>A (p.Pro7=) rs587781157 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.3715G>C (p.Glu1239Gln) rs199473211 0.00003
NM_000335.5(SCN5A):c.3837C>T (p.Asp1279=) rs749069817 0.00003
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr) rs137854603 0.00003
NM_000335.5(SCN5A):c.1035C>T (p.Gly345=) rs764026969 0.00002
NM_000335.5(SCN5A):c.158G>A (p.Arg53Gln) rs199473049 0.00002
NM_000335.5(SCN5A):c.2001C>T (p.Ser667=) rs587781161 0.00002
NM_000335.5(SCN5A):c.2014G>A (p.Ala672Thr) rs199473140 0.00002
NM_000335.5(SCN5A):c.2039G>A (p.Arg680His) rs199473142 0.00002
NM_000335.5(SCN5A):c.2141T>C (p.Val714Ala) rs759036311 0.00002
NM_000335.5(SCN5A):c.3732G>A (p.Met1244Ile) rs753677814 0.00002
NM_000335.5(SCN5A):c.3795C>T (p.Tyr1265=) rs371610895 0.00002
NM_000335.5(SCN5A):c.436G>A (p.Val146Met) rs199473061 0.00002
NM_000335.5(SCN5A):c.495C>T (p.Thr165=) rs62242804 0.00002
NM_000335.5(SCN5A):c.1338+18C>T rs761031894 0.00001
NM_000335.5(SCN5A):c.1345A>G (p.Thr449Ala) rs199473571 0.00001
NM_000335.5(SCN5A):c.1538G>A (p.Arg513His) rs397517951 0.00001
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=) rs751050999 0.00001
NM_000335.5(SCN5A):c.2379C>T (p.Leu793=) rs758397582 0.00001
NM_000335.5(SCN5A):c.2437-3C>T rs1289539591 0.00001
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899 0.00001
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile) rs199473177 0.00001
NM_000335.5(SCN5A):c.3456G>C (p.Gln1152His) rs776705132 0.00001
NM_000335.5(SCN5A):c.3509-3T>C rs924305428 0.00001
NM_000335.5(SCN5A):c.393-4G>A rs1390882998 0.00001
NM_000335.5(SCN5A):c.401A>G (p.Asn134Ser) rs879162705 0.00001
NM_000335.5(SCN5A):c.4068G>A (p.Ala1356=) rs187370816 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.4812C>T (p.Gly1604=) rs773016454 0.00001
NM_000335.5(SCN5A):c.4824G>A (p.Ser1608=) rs886058460 0.00001
NM_000335.5(SCN5A):c.5218G>A (p.Asp1740Asn) rs746418124 0.00001
NM_000335.5(SCN5A):c.5433G>A (p.Ser1811=) rs780761880 0.00001
NM_000335.5(SCN5A):c.5800G>A (p.Gly1934Ser) rs199473637 0.00001
NM_000335.5(SCN5A):c.6011C>T (p.Pro2004Leu) rs779649600 0.00001
NM_000335.5(SCN5A):c.6047G>A (p.Ter2016=) rs529885772 0.00001
NM_000335.5(SCN5A):c.687T>C (p.Thr229=) rs770390440 0.00001
NM_000335.5(SCN5A):c.703+11G>A rs779138392 0.00001
NM_000335.5(SCN5A):c.857C>T (p.Ala286Val) rs778943853 0.00001
NM_000335.5(SCN5A):c.898G>A (p.Val300Ile) rs199473088 0.00001
NM_000335.5(SCN5A):c.109A>G (p.Thr37Ala) rs753953732
NM_000335.5(SCN5A):c.1141-3C>T
NM_000335.5(SCN5A):c.1272C>G (p.Ile424Met) rs267599794
NM_000335.5(SCN5A):c.1372C>T (p.Arg458Cys) rs752130196
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) rs730880211
NM_000335.5(SCN5A):c.1715C>T (p.Ala572Val) rs36210423
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del) rs397517953
NM_000335.5(SCN5A):c.1762C>A (p.His588Asn) rs748732150
NM_000335.5(SCN5A):c.1891-8G>C rs12720064
NM_000335.5(SCN5A):c.1993G>T (p.Ala665Ser) rs756474485
NM_000335.5(SCN5A):c.2103G>T (p.Pro701=)
NM_000335.5(SCN5A):c.2415G>A (p.Ser805=) rs754312452
NM_000335.5(SCN5A):c.268C>A (p.Gln90Lys) rs794728839
NM_000335.5(SCN5A):c.331T>C (p.Leu111=)
NM_000335.5(SCN5A):c.3388-10_3388-9del rs2061494723
NM_000335.5(SCN5A):c.3540G>A (p.Val1180=) rs1575749126
NM_000335.5(SCN5A):c.3904C>A (p.Arg1302=) rs200334972
NM_000335.5(SCN5A):c.393-5C>T rs368678204
NM_000335.5(SCN5A):c.4053C>T (p.Gly1351=) rs587781165
NM_000335.5(SCN5A):c.4422A>G (p.Gln1474=) rs2125835217
NM_000335.5(SCN5A):c.4810+4G>A rs1011460663
NM_000335.5(SCN5A):c.483G>A (p.Glu161=) rs2062306921
NM_000335.5(SCN5A):c.5313G>A (p.Leu1771=) rs2061027209
NM_000335.5(SCN5A):c.5452_5454delinsAAC (p.Asp1818Asn) rs2061022221
NM_000335.5(SCN5A):c.5648C>T (p.Pro1883Leu) rs755162776
NM_000335.5(SCN5A):c.5796C>T (p.Gly1932=) rs2061011853
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.5987A>G (p.His1996Arg)
NM_000335.5(SCN5A):c.6007T>G (p.Phe2003Val) rs41311117
NM_000335.5(SCN5A):c.6008T>C (p.Phe2003Ser) rs794728842
NM_000335.5(SCN5A):c.703+6A>G rs781104838
NM_000335.5(SCN5A):c.704-14C>A
NM_001099404.2(SCN5A):c.615T>A (p.Tyr205Ter) rs765669597
NM_001099404.2(SCN5A):c.655C>T (p.Arg219Ter) rs577421914

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