ClinVar Miner

List of variants in gene CACNA2D1 reported as uncertain significance for Brugada syndrome

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Total variants: 205
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HGVS dbSNP gnomAD frequency
NM_000722.4(CACNA2D1):c.2768C>G (p.Thr923Ser) rs139608070 0.00047
NM_000722.4(CACNA2D1):c.1405A>G (p.Ile469Val) rs139439725 0.00026
NM_000722.4(CACNA2D1):c.2751A>T (p.Gln917His) rs145109446 0.00018
NM_000722.4(CACNA2D1):c.2983A>C (p.Lys995Gln) rs749398266 0.00017
NM_000722.4(CACNA2D1):c.532A>G (p.Ile178Val) rs80063198 0.00016
NM_000722.4(CACNA2D1):c.1222+4A>T rs79571328 0.00014
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr) rs542692632 0.00011
NM_000722.4(CACNA2D1):c.897G>C (p.Gln299His) rs141238313 0.00011
NM_000722.4(CACNA2D1):c.590G>A (p.Arg197His) rs375189396 0.00010
NM_000722.4(CACNA2D1):c.1066A>G (p.Lys356Glu) rs201682618 0.00009
NM_000722.4(CACNA2D1):c.1375G>C (p.Val459Leu) rs765696205 0.00009
NM_000722.4(CACNA2D1):c.2059G>A (p.Ala687Thr) rs751204853 0.00009
NM_000722.4(CACNA2D1):c.2333C>T (p.Ser778Leu) rs202108848 0.00008
NM_000722.4(CACNA2D1):c.1086G>A (p.Thr362=) rs148592476 0.00006
NM_000722.4(CACNA2D1):c.1662+3G>A rs375174760 0.00006
NM_000722.4(CACNA2D1):c.3218T>C (p.Ile1073Thr) rs146250893 0.00006
NM_000722.4(CACNA2D1):c.2791C>G (p.Gln931Glu) rs145110338 0.00005
NM_000722.4(CACNA2D1):c.2861C>T (p.Thr954Met) rs111888027 0.00005
NM_000722.4(CACNA2D1):c.2914G>A (p.Asp972Asn) rs776720930 0.00005
NM_000722.4(CACNA2D1):c.1141A>G (p.Lys381Glu) rs756707031 0.00004
NM_000722.4(CACNA2D1):c.1178A>G (p.Asn393Ser) rs149828018 0.00004
NM_000722.4(CACNA2D1):c.1736G>A (p.Arg579Lys) rs1021370066 0.00004
NM_000722.4(CACNA2D1):c.2142C>T (p.Ile714=) rs745501384 0.00004
NM_000722.4(CACNA2D1):c.2324C>A (p.Ala775Asp) rs768768419 0.00004
NM_000722.4(CACNA2D1):c.2717C>T (p.Ser906Leu) rs1015793463 0.00004
NM_000722.4(CACNA2D1):c.3060A>G (p.Ile1020Met) rs748581194 0.00004
NM_000722.4(CACNA2D1):c.3066G>A (p.Ala1022=) rs780560452 0.00004
NM_000722.4(CACNA2D1):c.741A>T (p.Gly247=) rs372164615 0.00004
NM_000722.4(CACNA2D1):c.818G>A (p.Arg273Gln) rs373911809 0.00004
NM_000722.4(CACNA2D1):c.1411G>A (p.Gly471Ser) rs377337212 0.00003
NM_000722.4(CACNA2D1):c.2986C>A (p.Leu996Ile) rs1218449046 0.00003
NM_000722.4(CACNA2D1):c.1993A>G (p.Thr665Ala) rs780901801 0.00002
NM_000722.4(CACNA2D1):c.3260C>T (p.Thr1087Ile) rs1457933535 0.00002
NM_000722.4(CACNA2D1):c.560G>A (p.Ser187Asn) rs955984125 0.00002
NM_000722.4(CACNA2D1):c.688C>T (p.Pro230Ser) rs1461155317 0.00002
NM_000722.4(CACNA2D1):c.149C>T (p.Thr50Ile) rs1477267428 0.00001
NM_000722.4(CACNA2D1):c.1508G>A (p.Arg503His) rs758561622 0.00001
NM_000722.4(CACNA2D1):c.1526A>G (p.Asn509Ser) rs1386287681 0.00001
NM_000722.4(CACNA2D1):c.1772C>T (p.Thr591Ile) rs773781850 0.00001
NM_000722.4(CACNA2D1):c.1880A>G (p.Lys627Arg) rs1064795828 0.00001
NM_000722.4(CACNA2D1):c.1884C>T (p.Gly628=) rs752092062 0.00001
NM_000722.4(CACNA2D1):c.1906C>G (p.Leu636Val) rs1218084026 0.00001
NM_000722.4(CACNA2D1):c.1924G>C (p.Glu642Gln) rs775481386 0.00001
NM_000722.4(CACNA2D1):c.1955+6T>A rs770715906 0.00001
NM_000722.4(CACNA2D1):c.1990A>T (p.Asn664Tyr) rs777463785 0.00001
NM_000722.4(CACNA2D1):c.2060C>T (p.Ala687Val) rs761738920 0.00001
NM_000722.4(CACNA2D1):c.2077G>A (p.Val693Ile) rs767475523 0.00001
NM_000722.4(CACNA2D1):c.2238A>G (p.Thr746=) rs192741898 0.00001
NM_000722.4(CACNA2D1):c.2321G>A (p.Gly774Asp) rs776559898 0.00001
NM_000722.4(CACNA2D1):c.2592A>T (p.Gly864=) rs556022468 0.00001
NM_000722.4(CACNA2D1):c.2602C>T (p.Pro868Ser) rs1454596711 0.00001
NM_000722.4(CACNA2D1):c.2606G>A (p.Ser869Asn) rs1379942443 0.00001
NM_000722.4(CACNA2D1):c.2683G>A (p.Gly895Ser) rs772889955 0.00001
NM_000722.4(CACNA2D1):c.2720C>T (p.Ala907Val) rs1214105842 0.00001
NM_000722.4(CACNA2D1):c.2785A>G (p.Ile929Val) rs774978800 0.00001
NM_000722.4(CACNA2D1):c.2822G>A (p.Arg941Gln) rs991607267 0.00001
NM_000722.4(CACNA2D1):c.2867C>A (p.Ser956Tyr) rs768081623 0.00001
NM_000722.4(CACNA2D1):c.3109C>G (p.Gln1037Glu) rs748929082 0.00001
NM_000722.4(CACNA2D1):c.3208T>C (p.Trp1070Arg) rs1024010075 0.00001
NM_000722.4(CACNA2D1):c.341G>T (p.Arg114Ile) rs1243465087 0.00001
NM_000722.4(CACNA2D1):c.394G>T (p.Asp132Tyr) rs749965891 0.00001
NM_000722.4(CACNA2D1):c.435A>G (p.Ile145Met) rs756765026 0.00001
NM_000722.4(CACNA2D1):c.525C>A (p.Gly175=) rs766849009 0.00001
NM_000722.4(CACNA2D1):c.68C>T (p.Ser23Leu) rs532261094 0.00001
NM_000722.4(CACNA2D1):c.810A>C (p.Lys270Asn) rs779135778 0.00001
NM_000722.4(CACNA2D1):c.961G>A (p.Ala321Thr) rs747509072 0.00001
NC_000007.13:g.(?_81579698)_(81594991_?)dup
NC_000007.13:g.(?_81579698)_(81603878_?)dup
NC_000007.13:g.(?_81579708)_(81579844_?)dup
NC_000007.13:g.(?_81964431)_(81978985_?)del
NC_000007.13:g.(?_81964431)_(81978985_?)dup
NC_000007.13:g.(?_81978864)_(82072775_?)dup
NC_000007.13:g.(?_81978874)_(82072785_?)dup
NC_000007.13:g.(?_82072661)_(82072775_?)dup
NC_000007.14:g.(?_81967159)_(81970747_?)del
NM_000722.4(CACNA2D1):c.1009T>A (p.Phe337Ile)
NM_000722.4(CACNA2D1):c.10G>A (p.Gly4Ser)
NM_000722.4(CACNA2D1):c.1122C>G (p.Asn374Lys)
NM_000722.4(CACNA2D1):c.1148G>A (p.Arg383His) rs1562870772
NM_000722.4(CACNA2D1):c.1156A>G (p.Thr386Ala) rs2130949881
NM_000722.4(CACNA2D1):c.116A>G (p.Lys39Arg)
NM_000722.4(CACNA2D1):c.1180T>C (p.Tyr394His)
NM_000722.4(CACNA2D1):c.1222+6A>C
NM_000722.4(CACNA2D1):c.1259G>A (p.Arg420Lys) rs886039110
NM_000722.4(CACNA2D1):c.1330G>A (p.Val444Ile) rs1799865602
NM_000722.4(CACNA2D1):c.1362+2_1362+5dup
NM_000722.4(CACNA2D1):c.1434_1439del (p.Asn478_Leu479del) rs1554349582
NM_000722.4(CACNA2D1):c.1474G>C (p.Val492Leu)
NM_000722.4(CACNA2D1):c.1516-4_1516-3delinsAA
NM_000722.4(CACNA2D1):c.1516-5T>A rs2130867687
NM_000722.4(CACNA2D1):c.1576A>G (p.Asn526Asp)
NM_000722.4(CACNA2D1):c.1609C>G (p.Pro537Ala) rs1554345090
NM_000722.4(CACNA2D1):c.1642G>A (p.Glu548Lys)
NM_000722.4(CACNA2D1):c.1642G>C (p.Glu548Gln)
NM_000722.4(CACNA2D1):c.1667G>A (p.Arg556Gln) rs1584331322
NM_000722.4(CACNA2D1):c.1735A>C (p.Arg579=)
NM_000722.4(CACNA2D1):c.1745A>G (p.Asp582Gly)
NM_000722.4(CACNA2D1):c.1774C>T (p.Pro592Ser)
NM_000722.4(CACNA2D1):c.1796+4A>G
NM_000722.4(CACNA2D1):c.1797-14T>G
NM_000722.4(CACNA2D1):c.1832A>G (p.Tyr611Cys)
NM_000722.4(CACNA2D1):c.1878A>G (p.Lys626=)
NM_000722.4(CACNA2D1):c.1895A>G (p.Asp632Gly)
NM_000722.4(CACNA2D1):c.1951C>G (p.Pro651Ala)
NM_000722.4(CACNA2D1):c.1967A>G (p.Asn656Ser)
NM_000722.4(CACNA2D1):c.1988A>G (p.Asn663Ser)
NM_000722.4(CACNA2D1):c.1991A>G (p.Asn664Ser)
NM_000722.4(CACNA2D1):c.2017G>A (p.Glu673Lys)
NM_000722.4(CACNA2D1):c.2048C>T (p.Pro683Leu)
NM_000722.4(CACNA2D1):c.2070T>G (p.Ile690Met) rs1554333986
NM_000722.4(CACNA2D1):c.2142-3C>T
NM_000722.4(CACNA2D1):c.2142C>G (p.Ile714Met) rs745501384
NM_000722.4(CACNA2D1):c.2159G>A (p.Arg720Gln)
NM_000722.4(CACNA2D1):c.2189G>A (p.Arg730Lys)
NM_000722.4(CACNA2D1):c.2200A>G (p.Lys734Glu) rs1554333593
NM_000722.4(CACNA2D1):c.2207C>G (p.Ala736Gly)
NM_000722.4(CACNA2D1):c.226C>T (p.Arg76Cys)
NM_000722.4(CACNA2D1):c.227G>T (p.Arg76Leu) rs200298945
NM_000722.4(CACNA2D1):c.2291C>G (p.Thr764Ser) rs2130421265
NM_000722.4(CACNA2D1):c.2300A>G (p.Tyr767Cys)
NM_000722.4(CACNA2D1):c.2309-3T>A
NM_000722.4(CACNA2D1):c.2317C>T (p.Pro773Ser) rs1268971839
NM_000722.4(CACNA2D1):c.2318C>T (p.Pro773Leu) rs772938422
NM_000722.4(CACNA2D1):c.2336G>A (p.Gly779Asp)
NM_000722.4(CACNA2D1):c.2356G>A (p.Val786Ile)
NM_000722.4(CACNA2D1):c.2398G>A (p.Val800Ile) rs1365919214
NM_000722.4(CACNA2D1):c.2458G>A (p.Asp820Asn)
NM_000722.4(CACNA2D1):c.2486G>A (p.Cys829Tyr)
NM_000722.4(CACNA2D1):c.2513G>T (p.Cys838Phe) rs1584210392
NM_000722.4(CACNA2D1):c.251G>A (p.Arg84Lys)
NM_000722.4(CACNA2D1):c.253G>A (p.Asp85Asn) rs769700955
NM_000722.4(CACNA2D1):c.2560G>A (p.Asp854Asn) rs2130335993
NM_000722.4(CACNA2D1):c.2574+3A>C
NM_000722.4(CACNA2D1):c.2574+3A>G
NM_000722.4(CACNA2D1):c.2668T>G (p.Ser890Ala)
NM_000722.4(CACNA2D1):c.2677G>C (p.Glu893Gln)
NM_000722.4(CACNA2D1):c.2689G>A (p.Ala897Thr)
NM_000722.4(CACNA2D1):c.2710C>T (p.His904Tyr)
NM_000722.4(CACNA2D1):c.2713C>T (p.Arg905Cys)
NM_000722.4(CACNA2D1):c.2721A>G (p.Ala907=) rs758369222
NM_000722.4(CACNA2D1):c.2727+4A>G
NM_000722.4(CACNA2D1):c.2728C>T (p.Pro910Ser)
NM_000722.4(CACNA2D1):c.2760G>C (p.Trp920Cys) rs1554330432
NM_000722.4(CACNA2D1):c.2777C>T (p.Ala926Val)
NM_000722.4(CACNA2D1):c.2800C>T (p.Leu934Phe)
NM_000722.4(CACNA2D1):c.2821C>T (p.Arg941Ter)
NM_000722.4(CACNA2D1):c.2835A>T (p.Ala945=) rs748988843
NM_000722.4(CACNA2D1):c.2881A>G (p.Ser961Gly) rs750969626
NM_000722.4(CACNA2D1):c.2891C>A (p.Thr964Asn)
NM_000722.4(CACNA2D1):c.2914G>T (p.Asp972Tyr)
NM_000722.4(CACNA2D1):c.2918A>T (p.Asn973Ile)
NM_000722.4(CACNA2D1):c.2923A>G (p.Ser975Gly)
NM_000722.4(CACNA2D1):c.2939G>C (p.Gly980Ala)
NM_000722.4(CACNA2D1):c.2944T>A (p.Leu982Ile)
NM_000722.4(CACNA2D1):c.2967-3C>A
NM_000722.4(CACNA2D1):c.2968A>G (p.Ile990Val)
NM_000722.4(CACNA2D1):c.2969T>A (p.Ile990Asn) rs2130187077
NM_000722.4(CACNA2D1):c.296G>A (p.Arg99His)
NM_000722.4(CACNA2D1):c.3016G>A (p.Val1006Ile)
NM_000722.4(CACNA2D1):c.3027del (p.Thr1011fs) rs1554327285
NM_000722.4(CACNA2D1):c.3050G>A (p.Arg1017Gln)
NM_000722.4(CACNA2D1):c.3065C>T (p.Ala1022Val)
NM_000722.4(CACNA2D1):c.3077-37_3077-12dup
NM_000722.4(CACNA2D1):c.3077-4_3077-3del rs773360358
NM_000722.4(CACNA2D1):c.310G>A (p.Ala104Thr)
NM_000722.4(CACNA2D1):c.311C>T (p.Ala104Val)
NM_000722.4(CACNA2D1):c.3130C>T (p.Pro1044Ser)
NM_000722.4(CACNA2D1):c.3167A>T (p.Tyr1056Phe)
NM_000722.4(CACNA2D1):c.3170C>G (p.Thr1057Ser) rs2129932628
NM_000722.4(CACNA2D1):c.3173_3176dup (p.Cys1059Ter)
NM_000722.4(CACNA2D1):c.3211T>C (p.Tyr1071His) rs2129931750
NM_000722.4(CACNA2D1):c.3212A>C (p.Tyr1071Ser) rs956966352
NM_000722.4(CACNA2D1):c.3242G>T (p.Trp1081Leu)
NM_000722.4(CACNA2D1):c.3254G>A (p.Gly1085Asp)
NM_000722.4(CACNA2D1):c.3266G>A (p.Arg1089His) rs143631985
NM_000722.4(CACNA2D1):c.3266G>T (p.Arg1089Leu) rs143631985
NM_000722.4(CACNA2D1):c.3274T>C (p.Ter1092Arg)
NM_000722.4(CACNA2D1):c.421G>C (p.Gly141Arg)
NM_000722.4(CACNA2D1):c.439C>T (p.Pro147Ser) rs869025369
NM_000722.4(CACNA2D1):c.43C>G (p.Gln15Glu) rs774697812
NM_000722.4(CACNA2D1):c.454G>A (p.Asp152Asn)
NM_000722.4(CACNA2D1):c.457G>A (p.Ala153Thr) rs1163800062
NM_000722.4(CACNA2D1):c.460A>G (p.Asn154Asp)
NM_000722.4(CACNA2D1):c.47C>T (p.Ser16Phe)
NM_000722.4(CACNA2D1):c.482A>G (p.Tyr161Cys) rs752496490
NM_000722.4(CACNA2D1):c.508A>G (p.Thr170Ala)
NM_000722.4(CACNA2D1):c.527-3T>C rs1554398187
NM_000722.4(CACNA2D1):c.529A>C (p.Thr177Pro)
NM_000722.4(CACNA2D1):c.551A>G (p.Asn184Ser) rs1434289035
NM_000722.4(CACNA2D1):c.585G>C (p.Lys195Asn) rs1035408693
NM_000722.4(CACNA2D1):c.58G>C (p.Gly20Arg)
NM_000722.4(CACNA2D1):c.62C>T (p.Pro21Leu)
NM_000722.4(CACNA2D1):c.655C>T (p.Pro219Ser)
NM_000722.4(CACNA2D1):c.659-3T>C rs770300395
NM_000722.4(CACNA2D1):c.677A>G (p.Asn226Ser)
NM_000722.4(CACNA2D1):c.702C>A (p.Asp234Glu)
NM_000722.4(CACNA2D1):c.729-10T>C
NM_000722.4(CACNA2D1):c.77C>A (p.Pro26Gln) rs1379575076
NM_000722.4(CACNA2D1):c.836T>C (p.Met279Thr)
NM_000722.4(CACNA2D1):c.845C>A (p.Thr282Asn)
NM_000722.4(CACNA2D1):c.865G>A (p.Val289Met)
NM_000722.4(CACNA2D1):c.901G>C (p.Val301Leu) rs2131202672
NM_000722.4(CACNA2D1):c.95+1G>A rs1554560384
NM_000722.4(CACNA2D1):c.95+5G>A
NM_000722.4(CACNA2D1):c.969T>A (p.Asn323Lys) rs1060503151

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