ClinVar Miner

List of variants in gene SCN5A reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 184
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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.5454T>C (p.Asp1818=) rs1805126 0.44288
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_000335.5(SCN5A):c.1141-3C>A rs41312433 0.16821
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.100C>T (p.Arg34Cys) rs6791924 0.03086
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.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
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.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.1017C>T (p.Tyr339=) rs17215493 0.00354
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
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.1852C>T (p.Leu618Phe) rs45488304 0.00178
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.1236C>T (p.Val412=) rs45565936 0.00114
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.856G>T (p.Ala286Ser) rs61746118 0.00089
NM_000335.5(SCN5A):c.1714G>T (p.Ala572Ser) rs184442491 0.00079
NM_000335.5(SCN5A):c.2437-13C>T rs45455099 0.00076
NM_000335.5(SCN5A):c.5793G>A (p.Ala1931=) rs200594132 0.00070
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.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000335.5(SCN5A):c.3663+10T>C rs200656652 0.00046
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.1479G>A (p.Arg493=) rs138870926 0.00043
NM_000335.5(SCN5A):c.1008G>A (p.Pro336=) rs200285003 0.00042
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu) rs199473320 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.5709G>A (p.Ser1903=) rs376826051 0.00034
NM_000335.5(SCN5A):c.456C>T (p.Asp152=) rs190803993 0.00031
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly) rs199473113 0.00024
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733 0.00019
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.5474G>A (p.Arg1825His) rs137854610 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.5857G>A (p.Glu1953Lys) rs397517956 0.00013
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) rs372970828 0.00011
NM_000335.5(SCN5A):c.4299T>C (p.Tyr1433=) rs200556220 0.00010
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=) rs368980118 0.00010
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His) rs199473145 0.00009
NM_000335.5(SCN5A):c.2103G>A (p.Pro701=) rs564847999 0.00009
NM_000335.5(SCN5A):c.3618C>T (p.Phe1206=) rs184934308 0.00009
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn) rs199473599 0.00009
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278 0.00009
NM_000335.5(SCN5A):c.5035G>A (p.Ala1679Thr) rs199473294 0.00009
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) rs45465995 0.00009
NM_000335.5(SCN5A):c.2268C>T (p.Phe756=) rs372271677 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.993C>T (p.Asp331=) rs757715398 0.00007
NM_000335.5(SCN5A):c.142G>A (p.Glu48Lys) rs199473048 0.00006
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=) rs200868190 0.00006
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044 0.00006
NM_000335.5(SCN5A):c.5799C>T (p.Ser1933=) rs375254452 0.00006
NM_000335.5(SCN5A):c.6001G>A (p.Ala2001Thr) rs771018427 0.00006
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg) rs199473128 0.00005
NM_000335.5(SCN5A):c.4083G>A (p.Arg1361=) rs377173580 0.00005
NM_000335.5(SCN5A):c.1195C>T (p.Leu399=) rs369253900 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.5958C>A (p.Asn1986Lys) rs199473335 0.00004
NM_000335.5(SCN5A):c.5969G>A (p.Arg1990Gln) rs199473336 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.954C>T (p.Asn318=) rs372623225 0.00004
NM_000335.5(SCN5A):c.1188C>T (p.Val396=) rs749683415 0.00003
NM_000335.5(SCN5A):c.1880C>T (p.Pro627Leu) rs778522112 0.00003
NM_000335.5(SCN5A):c.3879C>T (p.Ala1293=) rs372132916 0.00003
NM_000335.5(SCN5A):c.393-1C>T rs759235726 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.5371G>A (p.Asp1791Asn) rs727504495 0.00003
NM_000335.5(SCN5A):c.2039G>A (p.Arg680His) rs199473142 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.3408C>T (p.Ser1136=) rs553231555 0.00002
NM_000335.5(SCN5A):c.4209C>T (p.Asn1403=) rs397517954 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.4857G>A (p.Thr1619=) rs753174463 0.00002
NM_000335.5(SCN5A):c.5061C>T (p.Ile1687=) rs145731678 0.00002
NM_000335.5(SCN5A):c.5783G>A (p.Arg1928His) rs727504822 0.00002
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn) rs779687673 0.00001
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097 0.00001
NM_000335.5(SCN5A):c.152C>T (p.Ala51Val) rs727505131 0.00001
NM_000335.5(SCN5A):c.1538G>A (p.Arg513His) rs397517951 0.00001
NM_000335.5(SCN5A):c.1659G>A (p.Glu553=) rs727503409 0.00001
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=) rs1204915217 0.00001
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=) rs751050999 0.00001
NM_000335.5(SCN5A):c.2313C>T (p.Leu771=) rs876657580 0.00001
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.2542A>T (p.Ile848Phe) rs199473166 0.00001
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile) rs199473177 0.00001
NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr) rs199473595 0.00001
NM_000335.5(SCN5A):c.3659C>T (p.Ala1220Val) rs727503407 0.00001
NM_000335.5(SCN5A):c.369G>A (p.Ala123=) rs727504886 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691 0.00001
NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter) rs761505217 0.00001
NM_000335.5(SCN5A):c.5065G>A (p.Asp1689Asn) rs1060499900 0.00001
NM_000335.5(SCN5A):c.5165C>A (p.Thr1722Asn) rs199473300 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000335.5(SCN5A):c.5537G>A (p.Arg1846His) rs369058100 0.00001
NM_000335.5(SCN5A):c.5606C>A (p.Ala1869Asp) rs727504759 0.00001
NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His) rs370694515 0.00001
NM_000335.5(SCN5A):c.5946C>T (p.Ala1982=) rs397517957 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.665G>A (p.Arg222Gln) rs45546039 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.944T>C (p.Leu315Pro) rs199473564 0.00001
NM_000335.5(SCN5A):c.1020G>T (p.Arg340=) rs727503410
NM_000335.5(SCN5A):c.1050C>G (p.His350Gln) rs587781160
NM_000335.5(SCN5A):c.1237G>T (p.Ala413Ser) rs199473110
NM_000335.5(SCN5A):c.1347C>A (p.Thr449=) rs45477694
NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_000335.5(SCN5A):c.1653G>A (p.Ala551=) rs397517952
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
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.1936del (p.Gln646fs) rs727505158
NM_000335.5(SCN5A):c.1993G>A (p.Ala665Thr) rs756474485
NM_000335.5(SCN5A):c.2240A>C (p.Glu747Ala) rs747324991
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter) rs1553700699
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.255del (p.Phe86fs) rs727503411
NM_000335.5(SCN5A):c.2647G>A (p.Asp883Asn) rs727505351
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile) rs199473054
NM_000335.5(SCN5A):c.3508+14C>A rs397516561
NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter) rs1237724419
NM_000335.5(SCN5A):c.3844C>A (p.Leu1282Met) rs199473216
NM_000335.5(SCN5A):c.3904C>A (p.Arg1302=) rs200334972
NM_000335.5(SCN5A):c.3960+1G>A rs483353016
NM_000335.5(SCN5A):c.3992del (p.Pro1331fs) rs727504801
NM_000335.5(SCN5A):c.4242+1G>C rs794728879
NM_000335.5(SCN5A):c.4243-2A>G rs1575719863
NM_000335.5(SCN5A):c.4296+10C>T rs1553694579
NM_000335.5(SCN5A):c.4296+6T>A rs794728934
NM_000335.5(SCN5A):c.4348G>C (p.Val1450Leu) rs876657996
NM_000335.5(SCN5A):c.4464G>T (p.Glu1488Asp) rs199473616
NM_000335.5(SCN5A):c.483-1G>A rs794728846
NM_000335.5(SCN5A):c.5006T>C (p.Ile1669Thr) rs397517955
NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter) rs1480085793
NM_000335.5(SCN5A):c.567T>C (p.Leu189=) rs876657581
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.703+6A>G rs781104838
NM_000335.5(SCN5A):c.704-2A>G rs1553705586
NM_000335.5(SCN5A):c.756T>C (p.Asp252=) rs397517958
NM_001099404.2(SCN5A):c.615T>A (p.Tyr205Ter) rs765669597

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