ClinVar Miner

List of variants reported as benign for Brugada syndrome 1

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 226
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006514.4(SCN10A):c.5137A>G (p.Met1713Val) rs6599241 1.00000
NM_006514.4(SCN10A):c.4866T>C (p.Ser1622=) rs6599242 0.93283
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=) rs7430407 0.90302
NM_000335.5(SCN5A):c.87A>G (p.Ala29=) rs6599230 0.80621
NM_006514.4(SCN10A):c.3218T>C (p.Val1073Ala) rs6795970 0.70355
NM_006514.4(SCN10A):c.1868-9A>G rs6599250 0.69912
NM_006514.4(SCN10A):c.3088-510A>G rs6801957 0.67159
NM_000335.5(SCN5A):c.*123A>G rs7429945 0.44373
NM_000335.5(SCN5A):c.*963C>T rs4073796 0.44325
NM_001377540.1(SLMAP):c.967-979A>G rs9844865 0.33177
NM_006514.4(SCN10A):c.884-13T>C rs7641844 0.30982
NM_000722.4(CACNA2D1):c.3114C>T (p.Pro1038=) rs1229502 0.25231
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_001377540.1(SLMAP):c.1443C>T (p.Asp481=) rs17058639 0.23931
NM_006514.4(SCN10A):c.3275T>C (p.Leu1092Pro) rs12632942 0.21722
NM_006514.4(SCN10A):c.3393C>G (p.Thr1131=) rs6771157 0.21708
NM_000335.5(SCN5A):c.*1537T>C rs41315485 0.21494
NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val) rs57326399 0.20797
NM_006514.4(SCN10A):c.4323A>G (p.Lys1441=) rs6790627 0.20722
NM_006514.4(SCN10A):c.1476C>T (p.Leu492=) rs7617919 0.20158
NM_006514.4(SCN10A):c.1284G>A (p.Glu428=) rs62244070 0.20052
NM_001377540.1(SLMAP):c.828+11C>A rs2306056 0.19942
NM_006514.4(SCN10A):c.2937C>T (p.Gly979=) rs59468016 0.18899
NM_015141.4(GPD1L):c.408C>T (p.Asp136=) rs9835387 0.17620
NM_000335.5(SCN5A):c.1141-3C>A rs41312433 0.16821
NM_006514.4(SCN10A):c.3192G>A (p.Thr1064=) rs6791171 0.15667
NM_012282.4(KCNE5):c.97C>T (p.Pro33Ser) rs17003955 0.10059
NM_006514.4(SCN10A):c.1525T>C (p.Ser509Pro) rs7630989 0.08988
NM_000335.5(SCN5A):c.*753C>T rs41310757 0.08896
NM_006514.4(SCN10A):c.3088-20T>C rs11129804 0.06869
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.2788-6C>T rs41260344 0.04241
NM_000722.4(CACNA2D1):c.963G>A (p.Ala321=) rs2229952 0.03521
NM_001377540.1(SLMAP):c.1300+14A>G rs111294347 0.03108
NM_001377540.1(SLMAP):c.2145G>A (p.Gln715=) rs17745496 0.02362
NM_000722.4(CACNA2D1):c.1279T>C (p.Leu427=) rs37133 0.02238
NM_006514.4(SCN10A):c.5217C>T (p.Asp1739=) rs116353929 0.02232
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_015141.4(GPD1L):c.959+16G>A rs72546643 0.01970
NM_006514.4(SCN10A):c.4710G>A (p.Thr1570=) rs78425180 0.01966
NM_004982.4(KCNJ8):c.291C>G (p.Ala97=) rs34524779 0.01829
NM_004982.4(KCNJ8):c.1001T>C (p.Val334Ala) rs34811413 0.01825
NM_006514.4(SCN10A):c.3133C>A (p.Pro1045Thr) rs73062575 0.01804
NM_001377540.1(SLMAP):c.1968T>A (p.Leu656=) rs35219531 0.01667
NM_000335.5(SCN5A):c.*1165C>T rs41313017 0.01492
NM_006514.4(SCN10A):c.4090-19C>T rs77494117 0.01447
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) rs41313699 0.01360
NM_006514.4(SCN10A):c.618A>G (p.Ile206Met) rs74717885 0.01345
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_000335.5(SCN5A):c.*159C>T rs41313019 0.01171
NM_004982.4(KCNJ8):c.855G>A (p.Leu285=) rs34093632 0.01061
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_006514.4(SCN10A):c.5089G>A (p.Val1697Ile) rs77804526 0.00850
NM_000335.5(SCN5A):c.*614G>A rs41315491 0.00841
NM_000722.4(CACNA2D1):c.2205-18G>A rs77599790 0.00807
NM_000335.5(SCN5A):c.*1164G>T rs41315489 0.00746
NM_000722.4(CACNA2D1):c.659-18_659-17insC rs1554387291 0.00740
NM_000722.4(CACNA2D1):c.1332C>T (p.Val444=) rs73151504 0.00692
NM_006514.4(SCN10A):c.45C>T (p.Arg15=) rs34314583 0.00684
NM_006514.4(SCN10A):c.3087+15C>T rs140924179 0.00650
NM_004982.4(KCNJ8):c.793T>C (p.Leu265=) rs16924297 0.00638
NM_015141.4(GPD1L):c.366+8G>A rs72546650 0.00621
NM_015141.4(GPD1L):c.396G>A (p.Lys132=) rs61741845 0.00618
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445 0.00612
NM_000722.4(CACNA2D1):c.1144-18A>G rs78174406 0.00599
NM_015141.4(GPD1L):c.573C>G (p.Thr191=) rs72558073 0.00545
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_015141.4(GPD1L):c.81T>C (p.Asn27=) rs34278284 0.00515
NM_000722.4(CACNA2D1):c.659-17T>C rs201932919 0.00513
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_006514.4(SCN10A):c.4009T>A (p.Ser1337Thr) rs11711062 0.00451
NM_006514.4(SCN10A):c.4657+16C>T rs115824540 0.00446
NM_006514.4(SCN10A):c.4656G>A (p.Ala1552=) rs151182542 0.00431
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_000722.4(CACNA2D1):c.3134A>C (p.Asp1045Ala) rs35131433 0.00374
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00372
NM_006514.4(SCN10A):c.1768G>A (p.Gly590Arg) rs35332705 0.00371
NM_000719.7(CACNA1C):c.5360C>T (p.Thr1787Met) rs192749597 0.00353
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_006514.4(SCN10A):c.5657C>T (p.Ala1886Val) rs142653846 0.00318
NM_001377540.1(SLMAP):c.2064C>T (p.Thr688=) rs146313438 0.00301
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_006514.4(SCN10A):c.4416C>T (p.Ile1472=) rs144944369 0.00267
NM_001377540.1(SLMAP):c.495A>G (p.Leu165=) rs149758819 0.00253
NM_006514.4(SCN10A):c.3229-20C>T rs73825880 0.00248
NM_006514.4(SCN10A):c.950+17T>C rs188914048 0.00231
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_006514.4(SCN10A):c.1453C>T (p.Arg485Cys) rs151153639 0.00217
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) rs144888041 0.00212
NM_000722.4(CACNA2D1):c.1983G>A (p.Ser661=) rs75158917 0.00199
NM_015141.4(GPD1L):c.981G>A (p.Val327=) rs144877595 0.00195
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_000722.4(CACNA2D1):c.2837-7A>G rs112176710 0.00187
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304 0.00178
NM_000722.4(CACNA2D1):c.2673A>G (p.Val891=) rs142553634 0.00168
NM_006514.4(SCN10A):c.268C>T (p.Arg90Trp) rs144270136 0.00148
NM_001377540.1(SLMAP):c.829-15A>G rs142871558 0.00143
NM_000722.4(CACNA2D1):c.1038+12G>A rs117959542 0.00141
NM_006514.4(SCN10A):c.5496T>C (p.Thr1832=) rs112374164 0.00127
NM_015141.4(GPD1L):c.465C>T (p.Ala155=) rs113645050 0.00121
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199 0.00109
NM_006514.4(SCN10A):c.5295G>A (p.Ser1765=) rs145313578 0.00097
NM_012282.4(KCNE5):c.210C>T (p.Tyr70=) rs142564059 0.00089
NM_004982.4(KCNJ8):c.897G>A (p.Val299=) rs139329310 0.00088
NM_000722.4(CACNA2D1):c.1735-6T>C rs111772206 0.00084
NM_001377540.1(SLMAP):c.1776T>C (p.Asp592=) rs554868355 0.00080
NM_000722.4(CACNA2D1):c.1735-8del rs554101334 0.00076
NM_000722.4(CACNA2D1):c.2309-9T>A rs370816599 0.00073
NM_006514.4(SCN10A):c.1867+13C>T rs138063699 0.00072
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
NM_000722.4(CACNA2D1):c.2264G>C (p.Ser755Thr) rs151327713 0.00067
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_000722.4(CACNA2D1):c.2058C>T (p.Asn686=) rs147499376 0.00062
NM_006514.4(SCN10A):c.648A>C (p.Thr216=) rs150977149 0.00060
NM_015141.4(GPD1L):c.619-9C>G rs2044880 0.00057
NM_015141.4(GPD1L):c.828C>T (p.Ala276=) rs200392121 0.00055
NM_000722.4(CACNA2D1):c.651T>C (p.Tyr217=) rs146819424 0.00053
NM_004982.4(KCNJ8):c.507C>T (p.Ile169=) rs139304559 0.00051
NM_000335.5(SCN5A):c.553G>A (p.Ala185Thr) rs192113333 0.00049
NM_006514.4(SCN10A):c.4872C>T (p.Phe1624=) rs149642957 0.00049
NM_006514.4(SCN10A):c.3674T>C (p.Ile1225Thr) rs139638446 0.00048
NM_006514.4(SCN10A):c.4984G>A (p.Gly1662Ser) rs151090729 0.00047
NM_000722.4(CACNA2D1):c.2502C>T (p.Asp834=) rs142390338 0.00044
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_001377540.1(SLMAP):c.2055A>G (p.Ala685=) rs141033845 0.00036
NM_006514.4(SCN10A):c.3291C>G (p.Ile1097Met) rs148041371 0.00031
NM_015141.4(GPD1L):c.813G>T (p.Arg271=) rs35464343 0.00031
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183 0.00029
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331 0.00026
NM_006514.4(SCN10A):c.3542C>T (p.Thr1181Met) rs150773437 0.00026
NM_006514.4(SCN10A):c.5047C>T (p.Pro1683Ser) rs146999807 0.00025
NM_006514.4(SCN10A):c.2043C>T (p.Phe681=) rs367743519 0.00024
NM_001377540.1(SLMAP):c.1301-12T>C rs376904413 0.00023
NM_012282.4(KCNE5):c.241T>C (p.Tyr81His) rs199924386 0.00022
NM_004982.4(KCNJ8):c.111C>T (p.Ile37=) rs112604741 0.00021
NM_006514.4(SCN10A):c.4089+12A>T rs151164057 0.00019
NM_006514.4(SCN10A):c.53C>T (p.Pro18Leu) rs190176472 0.00019
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_001377540.1(SLMAP):c.2020+20A>G rs202130040 0.00015
NM_000722.4(CACNA2D1):c.960C>T (p.Asp320=) rs199512133 0.00014
NM_001377540.1(SLMAP):c.1923T>C (p.Ser641=) rs373485907 0.00013
NM_000722.4(CACNA2D1):c.728+13A>C rs149406906 0.00012
NM_006514.4(SCN10A):c.1157T>G (p.Phe386Cys) rs78555408 0.00012
NM_006514.4(SCN10A):c.2814C>T (p.Phe938=) rs200870389 0.00011
NM_000335.5(SCN5A):c.934+4C>T rs182050752 0.00009
NM_006514.4(SCN10A):c.390-9G>A rs370917734 0.00009
NM_006514.4(SCN10A):c.5628C>G (p.Thr1876=) rs147660344 0.00009
NM_006514.4(SCN10A):c.3238G>A (p.Asp1080Asn) rs376528831 0.00008
NM_012282.4(KCNE5):c.333C>T (p.Ala111=) rs752061790 0.00008
NM_006514.4(SCN10A):c.1949T>A (p.Met650Lys) rs201698323 0.00007
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His) rs199473592 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.5452G>A (p.Asp1818Asn) rs137854619 0.00006
NM_000722.4(CACNA2D1):c.1441-6T>C rs532460440 0.00006
NM_001377540.1(SLMAP):c.297C>T (p.Ser99=) rs190769315 0.00006
NM_006514.4(SCN10A):c.4515G>A (p.Thr1505=) rs191624001 0.00006
NM_001377540.1(SLMAP):c.324C>T (p.Asp108=) rs541100817 0.00004
NM_004982.4(KCNJ8):c.303C>T (p.Ile101=) rs758633200 0.00004
NM_001377540.1(SLMAP):c.1317A>G (p.Glu439=) rs189861519 0.00003
NM_001377540.1(SLMAP):c.1704A>G (p.Gln568=) rs771986392 0.00003
NM_001377540.1(SLMAP):c.828+10_828+11insA rs766631211 0.00003
NM_001377540.1(SLMAP):c.651A>G (p.Leu217=) rs74857771 0.00002
NM_001377540.1(SLMAP):c.828+11del rs113521063 0.00002
NM_006514.4(SCN10A):c.462G>A (p.Glu154=) rs541804553 0.00002
NM_006514.4(SCN10A):c.5834A>G (p.Glu1945Gly) rs372702302 0.00002
NM_000335.5(SCN5A):c.*1884G>A rs45624736 0.00001
NM_006514.4(SCN10A):c.4379G>A (p.Arg1460Gln) rs369399424 0.00001
NM_006514.4(SCN10A):c.4680T>G (p.Leu1560=) rs529845623 0.00001
NM_015141.4(GPD1L):c.852+20C>T rs189819292 0.00001
NM_000335.5(SCN5A):c.*962T>A rs4073797
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.274-25_274-24delinsAT rs386660280
NM_000335.5(SCN5A):c.373G>C (p.Val125Leu) rs199473059
NM_000335.5(SCN5A):c.6007T>G (p.Phe2003Val) rs41311117
NM_000719.7(CACNA1C):c.*5421del rs10713809
NM_000719.7(CACNA1C):c.*652_*659GCC[2]GGGAAGGGGCCGCCGG[1] rs71057834
NM_000722.4(CACNA2D1):c.1273-12del rs4019047
NM_000722.4(CACNA2D1):c.1273-12dup rs4019047
NM_000722.4(CACNA2D1):c.1273-13_1273-12dup
NM_000722.4(CACNA2D1):c.1273-16_1273-12dup rs4019047
NM_000722.4(CACNA2D1):c.1273-24_1273-21dup rs4019047
NM_000722.4(CACNA2D1):c.1273-24_1273-22dup rs4019047
NM_000722.4(CACNA2D1):c.1441-16del rs199645602
NM_000722.4(CACNA2D1):c.1516-9C>T rs201578104
NM_000722.4(CACNA2D1):c.178-12del rs5885290
NM_000722.4(CACNA2D1):c.178-13_178-12dup
NM_000722.4(CACNA2D1):c.178-21dup rs5885290
NM_000722.4(CACNA2D1):c.1956-12_1956-10dup rs3083235
NM_000722.4(CACNA2D1):c.1956-12_1956-11dup rs3083235
NM_000722.4(CACNA2D1):c.1956-12dup rs3083235
NM_000722.4(CACNA2D1):c.1956-4del rs3083235
NM_000722.4(CACNA2D1):c.2309-12dup rs762936617
NM_000722.4(CACNA2D1):c.2309-3del rs762936617
NM_000722.4(CACNA2D1):c.2727+8del rs538712996
NM_000722.4(CACNA2D1):c.2781-16del rs758260884
NM_000722.4(CACNA2D1):c.2781-16dup rs758260884
NM_000722.4(CACNA2D1):c.3160-18_3160-17dup rs367960608
NM_000722.4(CACNA2D1):c.3160-18dup rs367960608
NM_000722.4(CACNA2D1):c.3160-19_3160-16del rs548221134
NM_000722.4(CACNA2D1):c.3160-9del rs367960608
NM_000722.4(CACNA2D1):c.355-14_355-13dup rs142849270
NM_000722.4(CACNA2D1):c.355-14dup rs142849270
NM_000722.4(CACNA2D1):c.355-5del rs142849270
NM_000722.4(CACNA2D1):c.527-6dup rs754041784
NM_000722.4(CACNA2D1):c.831C>G (p.Ser277=) rs144936173
NM_001377540.1(SLMAP):c.1361-9del rs776085613
NM_001377540.1(SLMAP):c.199-5dup rs199960887
NM_001377540.1(SLMAP):c.2021-14del
NM_001377540.1(SLMAP):c.2311-14_2311-13del
NM_001377540.1(SLMAP):c.346+24dup rs771836522
NM_001377540.1(SLMAP):c.419+29_419+39del rs748357817
NM_001377540.1(SLMAP):c.420-17T>A
NM_001377540.1(SLMAP):c.828+21del rs760021345
NM_001377540.1(SLMAP):c.828+21dup rs760021345
NM_004982.4(KCNJ8):c.471G>A (p.Thr157=) rs143319002
NM_004982.4(KCNJ8):c.66G>T (p.Leu22=)
NM_006514.4(SCN10A):c.1291-4G>A rs376077984
NM_006514.4(SCN10A):c.1291-5C>T rs563934615
NM_006514.4(SCN10A):c.2850A>G (p.Lys950=) rs7374804
NM_006514.4(SCN10A):c.285G>T (p.Leu95=) rs560088419
NM_006514.4(SCN10A):c.4694G>A (p.Ser1565Asn) rs200063383
NM_015141.4(GPD1L):c.618+19dup

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.