ClinVar Miner

List of variants in gene CACNA2D1 reported as likely benign for Brugada syndrome

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 261
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HGVS dbSNP gnomAD frequency
NM_000722.4(CACNA2D1):c.659-19del rs756130642 0.00820
NM_000722.4(CACNA2D1):c.659-19C>T rs200166451 0.00353
NM_000722.4(CACNA2D1):c.2126G>A (p.Ser709Asn) rs78086631 0.00226
NM_000722.4(CACNA2D1):c.780-8A>G rs201901297 0.00082
NM_000722.4(CACNA2D1):c.2397T>A (p.Val799=) rs191213592 0.00047
NM_000722.4(CACNA2D1):c.1965C>T (p.Cys655=) rs184261698 0.00041
NM_000722.4(CACNA2D1):c.645T>A (p.Ala215=) rs140492813 0.00038
NM_000722.4(CACNA2D1):c.1273-11C>T rs1410751702 0.00036
NM_000722.4(CACNA2D1):c.2463+13T>A rs771850068 0.00034
NM_000722.4(CACNA2D1):c.1482G>A (p.Leu494=) rs141344702 0.00031
NM_000722.4(CACNA2D1):c.659-15T>A rs1046985886 0.00031
NM_000722.4(CACNA2D1):c.1273-12T>C rs560674806 0.00026
NM_000722.4(CACNA2D1):c.1516-14T>C rs375141743 0.00024
NM_000722.4(CACNA2D1):c.60C>T (p.Gly20=) rs780748693 0.00024
NM_000722.4(CACNA2D1):c.397-6A>G rs200817801 0.00023
NM_000722.4(CACNA2D1):c.1735-17G>A rs367841992 0.00019
NM_000722.4(CACNA2D1):c.3160-17T>C rs564122741 0.00017
NM_000722.4(CACNA2D1):c.3081C>T (p.Asp1027=) rs568821967 0.00015
NM_000722.4(CACNA2D1):c.1569A>G (p.Leu523=) rs200510364 0.00013
NM_000722.4(CACNA2D1):c.3265C>T (p.Arg1089Cys) rs550794714 0.00013
NM_000722.4(CACNA2D1):c.1530G>A (p.Gly510=) rs757607965 0.00012
NM_000722.4(CACNA2D1):c.3160-23_3160-20del rs777223558 0.00012
NM_000722.4(CACNA2D1):c.1686G>C (p.Gly562=) rs148283249 0.00011
NM_000722.4(CACNA2D1):c.2837-18C>T rs370496790 0.00011
NM_000722.4(CACNA2D1):c.2919C>T (p.Asn973=) rs374073497 0.00011
NM_000722.4(CACNA2D1):c.2727+12C>G rs765175609 0.00010
NM_000722.4(CACNA2D1):c.528A>C (p.Ser176=) rs138577227 0.00009
NM_000722.4(CACNA2D1):c.1887A>G (p.Lys629=) rs143995526 0.00008
NM_000722.4(CACNA2D1):c.2727+9T>C rs199542348 0.00008
NM_000722.4(CACNA2D1):c.2730A>T (p.Pro910=) rs187849336 0.00008
NM_000722.4(CACNA2D1):c.318A>G (p.Lys106=) rs757313687 0.00007
NM_000722.4(CACNA2D1):c.1608G>A (p.Glu536=) rs369435463 0.00006
NM_000722.4(CACNA2D1):c.1899G>A (p.Ser633=) rs763839433 0.00006
NM_000722.4(CACNA2D1):c.2334G>A (p.Ser778=) rs368512946 0.00006
NM_000722.4(CACNA2D1):c.2575-9C>G rs183290212 0.00006
NM_000722.4(CACNA2D1):c.396+16T>G rs761439392 0.00006
NM_000722.4(CACNA2D1):c.1038+9C>T rs367553287 0.00005
NM_000722.4(CACNA2D1):c.1740T>C (p.Tyr580=) rs761279886 0.00005
NM_000722.4(CACNA2D1):c.2016C>T (p.Asn672=) rs558175396 0.00005
NM_000722.4(CACNA2D1):c.2967-15A>G rs750119271 0.00005
NM_000722.4(CACNA2D1):c.1158G>A (p.Thr386=) rs753918568 0.00004
NM_000722.4(CACNA2D1):c.1223-17A>T rs1043041322 0.00004
NM_000722.4(CACNA2D1):c.1441-12C>G rs559623642 0.00004
NM_000722.4(CACNA2D1):c.177+11T>A rs376032102 0.00004
NM_000722.4(CACNA2D1):c.1796+8A>G rs200882576 0.00004
NM_000722.4(CACNA2D1):c.2054-20A>G rs751143429 0.00004
NM_000722.4(CACNA2D1):c.2151G>A (p.Val717=) rs150414062 0.00004
NM_000722.4(CACNA2D1):c.1038+8T>C rs1248422043 0.00003
NM_000722.4(CACNA2D1):c.1101G>A (p.Glu367=) rs145809709 0.00003
NM_000722.4(CACNA2D1):c.1611A>G (p.Pro537=) rs76594260 0.00003
NM_000722.4(CACNA2D1):c.1635A>C (p.Ala545=) rs540691116 0.00003
NM_000722.4(CACNA2D1):c.2464-4T>G rs752369061 0.00003
NM_000722.4(CACNA2D1):c.2837-10G>A rs530040333 0.00003
NM_000722.4(CACNA2D1):c.312G>A (p.Ala104=) rs565135307 0.00003
NM_000722.4(CACNA2D1):c.489C>T (p.His163=) rs372039045 0.00003
NM_000722.4(CACNA2D1):c.95+10C>T rs757840920 0.00003
NM_000722.4(CACNA2D1):c.1734+8T>C rs1008923000 0.00002
NM_000722.4(CACNA2D1):c.174T>C (p.Val58=) rs771474248 0.00002
NM_000722.4(CACNA2D1):c.2658T>C (p.Tyr886=) rs775601344 0.00002
NM_000722.4(CACNA2D1):c.2682C>T (p.Pro894=) rs147728344 0.00002
NM_000722.4(CACNA2D1):c.2836+18C>A rs769849031 0.00002
NM_000722.4(CACNA2D1):c.2837-14C>G rs774076778 0.00002
NM_000722.4(CACNA2D1):c.592G>A (p.Glu198Lys) rs370389203 0.00002
NM_000722.4(CACNA2D1):c.1062C>T (p.Cys354=) rs142965905 0.00001
NM_000722.4(CACNA2D1):c.1074T>C (p.Ile358=) rs973445005 0.00001
NM_000722.4(CACNA2D1):c.1144-11A>C rs1343233163 0.00001
NM_000722.4(CACNA2D1):c.1144-17T>C rs566289758 0.00001
NM_000722.4(CACNA2D1):c.1941A>G (p.Thr647=) rs1796550348 0.00001
NM_000722.4(CACNA2D1):c.2031A>G (p.Arg677=) rs766067770 0.00001
NM_000722.4(CACNA2D1):c.2040A>G (p.Pro680=) rs538190370 0.00001
NM_000722.4(CACNA2D1):c.2244G>A (p.Glu748=) rs754217639 0.00001
NM_000722.4(CACNA2D1):c.2463+14A>T rs749391834 0.00001
NM_000722.4(CACNA2D1):c.2502+14T>G rs376879282 0.00001
NM_000722.4(CACNA2D1):c.2728-17A>G rs1794453039 0.00001
NM_000722.4(CACNA2D1):c.2847G>A (p.Glu949=) rs139597562 0.00001
NM_000722.4(CACNA2D1):c.294+11A>G rs372555571 0.00001
NM_000722.4(CACNA2D1):c.2973T>C (p.Phe991=) rs1040607096 0.00001
NM_000722.4(CACNA2D1):c.3033A>G (p.Thr1011=) rs1300446703 0.00001
NM_000722.4(CACNA2D1):c.354+20A>G rs753020973 0.00001
NM_000722.4(CACNA2D1):c.45A>G (p.Gln15=) rs771243374 0.00001
NM_000722.4(CACNA2D1):c.498C>T (p.Val166=) rs774323684 0.00001
NM_000722.4(CACNA2D1):c.591C>T (p.Arg197=) rs749757910 0.00001
NM_000722.4(CACNA2D1):c.658+20A>G rs771189795 0.00001
NM_000722.4(CACNA2D1):c.658+8C>T rs548109932 0.00001
NM_000722.4(CACNA2D1):c.659-8T>G rs773518022 0.00001
NM_000722.4(CACNA2D1):c.66G>A (p.Ser22=) rs995732237 0.00001
NM_000722.4(CACNA2D1):c.735C>T (p.Ile245=) rs1281680153 0.00001
NM_000722.4(CACNA2D1):c.75G>A (p.Glu25=) rs199857487 0.00001
NM_000722.4(CACNA2D1):c.779+10T>C rs765637188 0.00001
NM_000722.4(CACNA2D1):c.880-10T>C rs1172160373 0.00001
NM_000722.4(CACNA2D1):c.1038+7A>G
NM_000722.4(CACNA2D1):c.1039-12T>C
NM_000722.4(CACNA2D1):c.1039-15T>G
NM_000722.4(CACNA2D1):c.1080A>G (p.Leu360=) rs1169691935
NM_000722.4(CACNA2D1):c.1143+8T>C
NM_000722.4(CACNA2D1):c.1144-6A>T rs1800182460
NM_000722.4(CACNA2D1):c.1164A>T (p.Ser388=)
NM_000722.4(CACNA2D1):c.1223-11G>A
NM_000722.4(CACNA2D1):c.1272+20G>A
NM_000722.4(CACNA2D1):c.1273-12_1273-11insTTTC rs72239441
NM_000722.4(CACNA2D1):c.1273-17_1273-12dup
NM_000722.4(CACNA2D1):c.1273-9C>T rs776181564
NM_000722.4(CACNA2D1):c.1273-9del
NM_000722.4(CACNA2D1):c.1273-9dup rs760642663
NM_000722.4(CACNA2D1):c.1281G>A (p.Leu427=) rs1799868121
NM_000722.4(CACNA2D1):c.1294A>C (p.Arg432=)
NM_000722.4(CACNA2D1):c.129C>T (p.Asp43=)
NM_000722.4(CACNA2D1):c.1362+19C>G
NM_000722.4(CACNA2D1):c.1410C>T (p.Thr470=)
NM_000722.4(CACNA2D1):c.1440+17T>C
NM_000722.4(CACNA2D1):c.1440+19A>G
NM_000722.4(CACNA2D1):c.1440+8G>T rs2130885006
NM_000722.4(CACNA2D1):c.1441-5_1441-3del
NM_000722.4(CACNA2D1):c.1476G>A (p.Val492=)
NM_000722.4(CACNA2D1):c.14G>C (p.Cys5Ser) rs552468945
NM_000722.4(CACNA2D1):c.1515+7T>C
NM_000722.4(CACNA2D1):c.1515+7T>G
NM_000722.4(CACNA2D1):c.1516-16T>A
NM_000722.4(CACNA2D1):c.1516-9_1516-7del
NM_000722.4(CACNA2D1):c.1545C>T (p.Ile515=)
NM_000722.4(CACNA2D1):c.1590+7A>G
NM_000722.4(CACNA2D1):c.1591-22ATT[2]
NM_000722.4(CACNA2D1):c.1591-8C>T rs2130798402
NM_000722.4(CACNA2D1):c.1593C>T (p.Asn531=)
NM_000722.4(CACNA2D1):c.1635A>G (p.Ala545=)
NM_000722.4(CACNA2D1):c.1662+12C>T rs748486095
NM_000722.4(CACNA2D1):c.1662+17A>G
NM_000722.4(CACNA2D1):c.1663-12A>C
NM_000722.4(CACNA2D1):c.1663-9T>C
NM_000722.4(CACNA2D1):c.168G>A (p.Gln56=)
NM_000722.4(CACNA2D1):c.1714C>T (p.Leu572=)
NM_000722.4(CACNA2D1):c.1735-18C>T
NM_000722.4(CACNA2D1):c.177+9A>C
NM_000722.4(CACNA2D1):c.178-12T>C
NM_000722.4(CACNA2D1):c.178-19T>G
NM_000722.4(CACNA2D1):c.1797-13G>A rs2130667478
NM_000722.4(CACNA2D1):c.1797-18C>T
NM_000722.4(CACNA2D1):c.1894+19C>G
NM_000722.4(CACNA2D1):c.1894+9T>C rs2130647213
NM_000722.4(CACNA2D1):c.1895-11T>G
NM_000722.4(CACNA2D1):c.1895-14C>T
NM_000722.4(CACNA2D1):c.1895-16A>G
NM_000722.4(CACNA2D1):c.1895-7T>C rs2130638150
NM_000722.4(CACNA2D1):c.1895-8C>T rs1584281988
NM_000722.4(CACNA2D1):c.1938T>C (p.Tyr646=)
NM_000722.4(CACNA2D1):c.1955+15A>G
NM_000722.4(CACNA2D1):c.1962C>T (p.Tyr654=) rs1795625802
NM_000722.4(CACNA2D1):c.2053+12T>G
NM_000722.4(CACNA2D1):c.2054-12T>C
NM_000722.4(CACNA2D1):c.2054-13T>C
NM_000722.4(CACNA2D1):c.2054-18G>T
NM_000722.4(CACNA2D1):c.2085T>C (p.Leu695=) rs1554333976
NM_000722.4(CACNA2D1):c.2141+10_2141+13del rs773095610
NM_000722.4(CACNA2D1):c.2141+7A>G
NM_000722.4(CACNA2D1):c.2142-20T>C
NM_000722.4(CACNA2D1):c.2142-9C>T
NM_000722.4(CACNA2D1):c.2205-15C>A rs2130423307
NM_000722.4(CACNA2D1):c.2235G>A (p.Glu745=) rs2130422241
NM_000722.4(CACNA2D1):c.2292T>C (p.Thr764=)
NM_000722.4(CACNA2D1):c.2309-21ATTT[2] rs374070810
NM_000722.4(CACNA2D1):c.2309-22_2309-18del
NM_000722.4(CACNA2D1):c.2334G>C (p.Ser778=) rs368512946
NM_000722.4(CACNA2D1):c.2395+10_2395+20del
NM_000722.4(CACNA2D1):c.2395+12T>C
NM_000722.4(CACNA2D1):c.2463+19A>G
NM_000722.4(CACNA2D1):c.2463+20T>A
NM_000722.4(CACNA2D1):c.2463+9T>C
NM_000722.4(CACNA2D1):c.2464-16C>T
NM_000722.4(CACNA2D1):c.2464-17G>A
NM_000722.4(CACNA2D1):c.2464-18C>T
NM_000722.4(CACNA2D1):c.2464-20A>G
NM_000722.4(CACNA2D1):c.2469T>C (p.Ala823=)
NM_000722.4(CACNA2D1):c.2472T>C (p.Gly824=)
NM_000722.4(CACNA2D1):c.2502+13T>C rs1794790861
NM_000722.4(CACNA2D1):c.2503-10_2503-6del rs774634676
NM_000722.4(CACNA2D1):c.2503-19G>C
NM_000722.4(CACNA2D1):c.2503-5G>T rs2130336971
NM_000722.4(CACNA2D1):c.2503-7T>C
NM_000722.4(CACNA2D1):c.2535G>A (p.Gly845=)
NM_000722.4(CACNA2D1):c.2565T>C (p.Tyr855=)
NM_000722.4(CACNA2D1):c.2574+17A>G
NM_000722.4(CACNA2D1):c.2574+19A>T
NM_000722.4(CACNA2D1):c.2574+20G>A
NM_000722.4(CACNA2D1):c.2575-16T>C
NM_000722.4(CACNA2D1):c.258T>C (p.Ile86=) rs1817830741
NM_000722.4(CACNA2D1):c.2727+11T>A
NM_000722.4(CACNA2D1):c.2727+16G>A
NM_000722.4(CACNA2D1):c.2727+17G>C
NM_000722.4(CACNA2D1):c.2728-4A>G
NM_000722.4(CACNA2D1):c.2730A>C (p.Pro910=) rs187849336
NM_000722.4(CACNA2D1):c.2733A>C (p.Ser911=)
NM_000722.4(CACNA2D1):c.2780+11A>T
NM_000722.4(CACNA2D1):c.2780+16A>G rs182676195
NM_000722.4(CACNA2D1):c.2811G>A (p.Leu937=)
NM_000722.4(CACNA2D1):c.2836+19C>G
NM_000722.4(CACNA2D1):c.2837-10_2837-4del
NM_000722.4(CACNA2D1):c.2837-11C>T
NM_000722.4(CACNA2D1):c.2837-17G>A
NM_000722.4(CACNA2D1):c.2837-4C>G rs1584191523
NM_000722.4(CACNA2D1):c.2862G>A (p.Thr954=)
NM_000722.4(CACNA2D1):c.2874C>T (p.Ser958=)
NM_000722.4(CACNA2D1):c.2895A>G (p.Glu965=)
NM_000722.4(CACNA2D1):c.294+20G>A
NM_000722.4(CACNA2D1):c.295-7T>A
NM_000722.4(CACNA2D1):c.295-9del
NM_000722.4(CACNA2D1):c.2958C>T (p.Asn986=) rs2130246839
NM_000722.4(CACNA2D1):c.2966+4ATTT[2] rs754772847
NM_000722.4(CACNA2D1):c.2966+8A>G
NM_000722.4(CACNA2D1):c.2967-9A>G
NM_000722.4(CACNA2D1):c.2997C>T (p.Thr999=) rs1237376693
NM_000722.4(CACNA2D1):c.3039A>C (p.Pro1013=)
NM_000722.4(CACNA2D1):c.3076+14T>G
NM_000722.4(CACNA2D1):c.3077-9C>T rs2130173741
NM_000722.4(CACNA2D1):c.3160-14T>G
NM_000722.4(CACNA2D1):c.3160-19_3160-15del rs778907208
NM_000722.4(CACNA2D1):c.3160-9T>A rs1792390693
NM_000722.4(CACNA2D1):c.31C>T (p.Leu11=) rs1830666860
NM_000722.4(CACNA2D1):c.3201C>T (p.Pro1067=) rs768028784
NM_000722.4(CACNA2D1):c.3275G>A (p.Ter1092=)
NM_000722.4(CACNA2D1):c.327A>C (p.Ala109=) rs1795907782
NM_000722.4(CACNA2D1):c.355-10T>G
NM_000722.4(CACNA2D1):c.355-18G>A
NM_000722.4(CACNA2D1):c.355-19C>T
NM_000722.4(CACNA2D1):c.378T>C (p.Asn126=)
NM_000722.4(CACNA2D1):c.393C>G (p.Leu131=)
NM_000722.4(CACNA2D1):c.396+8T>G
NM_000722.4(CACNA2D1):c.397-4A>G rs917105846
NM_000722.4(CACNA2D1):c.397-9T>C
NM_000722.4(CACNA2D1):c.480T>G (p.Ser160=)
NM_000722.4(CACNA2D1):c.540A>G (p.Leu180=)
NM_000722.4(CACNA2D1):c.54C>T (p.Leu18=) rs2129460343
NM_000722.4(CACNA2D1):c.57C>G (p.Ile19Met) rs770350248
NM_000722.4(CACNA2D1):c.57C>T (p.Ile19=) rs770350248
NM_000722.4(CACNA2D1):c.603T>G (p.Pro201=) rs1584688167
NM_000722.4(CACNA2D1):c.659-14T>A rs2128985236
NM_000722.4(CACNA2D1):c.659-19_659-17del
NM_000722.4(CACNA2D1):c.659-21_659-17del rs1562992730
NM_000722.4(CACNA2D1):c.659-23CT[4]
NM_000722.4(CACNA2D1):c.660T>C (p.Ala220=)
NM_000722.4(CACNA2D1):c.693T>C (p.Asn231=)
NM_000722.4(CACNA2D1):c.69G>C (p.Ser23=)
NM_000722.4(CACNA2D1):c.717C>G (p.Arg239=)
NM_000722.4(CACNA2D1):c.729-16A>G
NM_000722.4(CACNA2D1):c.729-4T>C rs756029866
NM_000722.4(CACNA2D1):c.780-12G>A rs780057040
NM_000722.4(CACNA2D1):c.822A>G (p.Thr274=)
NM_000722.4(CACNA2D1):c.831C>T (p.Ser277=) rs144936173
NM_000722.4(CACNA2D1):c.858T>C (p.Asp286=)
NM_000722.4(CACNA2D1):c.873A>C (p.Val291=)
NM_000722.4(CACNA2D1):c.879+19C>T
NM_000722.4(CACNA2D1):c.880-12A>G
NM_000722.4(CACNA2D1):c.880-13T>G
NM_000722.4(CACNA2D1):c.891T>C (p.Asn297=) rs1803540058
NM_000722.4(CACNA2D1):c.921T>C (p.Leu307=)
NM_000722.4(CACNA2D1):c.930A>G (p.Ala310=) rs2131202393
NM_000722.4(CACNA2D1):c.933T>C (p.Asn311=)
NM_000722.4(CACNA2D1):c.95+17G>A
NM_000722.4(CACNA2D1):c.95+19C>G
NM_000722.4(CACNA2D1):c.95+7C>G rs1440293365
NM_000722.4(CACNA2D1):c.96-18C>A
NM_000722.4(CACNA2D1):c.987A>G (p.Gly329=)

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