ClinVar Miner

List of variants in gene CACNA2D4 studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 211
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HGVS dbSNP gnomAD frequency
NM_172364.5(CACNA2D4):c.228-215T>C rs758157 0.93628
NM_172364.5(CACNA2D4):c.843-83C>G rs2906892 0.91687
NM_172364.5(CACNA2D4):c.979A>G (p.Ile327Val) rs10735005 0.91686
NM_172364.5(CACNA2D4):c.1351+72A>G rs2429184 0.91685
NM_172364.5(CACNA2D4):c.310-106A>G rs1558142 0.90569
NM_172364.5(CACNA2D4):c.2471-27_2471-26insG rs58188909 0.89524
NM_172364.5(CACNA2D4):c.2247-35A>G rs7137876 0.84213
NM_172364.5(CACNA2D4):c.2342+92G>T rs7138458 0.78150
NM_172364.5(CACNA2D4):c.1068+89T>C rs10774003 0.72251
NM_172364.5(CACNA2D4):c.2659-37G>A rs2286377 0.51307
NM_172364.5(CACNA2D4):c.*1336C>A rs1044825 0.45063
NM_172364.5(CACNA2D4):c.*55A>C rs2058111 0.44223
NM_172364.5(CACNA2D4):c.*1387G>A rs13219 0.43235
NM_172364.5(CACNA2D4):c.*657G>A rs2286379 0.42974
NM_172364.5(CACNA2D4):c.1940+49A>G rs10848582 0.40511
NM_172364.5(CACNA2D4):c.1515A>G (p.Thr505=) rs60945277 0.22589
NM_172364.5(CACNA2D4):c.1599A>G (p.Ser533=) rs7966806 0.16201
NM_172364.5(CACNA2D4):c.2517G>A (p.Ala839=) rs33972365 0.14052
NM_172364.5(CACNA2D4):c.*1275T>G rs12811035 0.13240
NM_172364.5(CACNA2D4):c.1068+13G>A rs61386831 0.12491
NM_172364.5(CACNA2D4):c.3330C>T (p.Gly1110=) rs33912216 0.10702
NM_172364.5(CACNA2D4):c.1866G>A (p.Pro622=) rs758160 0.10656
NM_172364.5(CACNA2D4):c.*467A>G rs73041886 0.09439
NM_172364.5(CACNA2D4):c.*463G>A rs73041888 0.09393
NM_172364.5(CACNA2D4):c.237A>G (p.Leu79=) rs73038195 0.06912
NM_172364.5(CACNA2D4):c.2035C>T (p.Leu679=) rs2286372 0.06118
NM_172364.5(CACNA2D4):c.2316C>T (p.Phe772=) rs11836202 0.05504
NM_172364.5(CACNA2D4):c.1068+12C>T rs77282921 0.03029
NM_172364.5(CACNA2D4):c.3310-4G>A rs80092457 0.02675
NM_172364.5(CACNA2D4):c.*1360G>A rs2041139 0.02608
NM_172364.5(CACNA2D4):c.2793-15G>A rs147575839 0.02191
NM_172364.5(CACNA2D4):c.2746G>A (p.Asp916Asn) rs62621429 0.02126
NM_172364.5(CACNA2D4):c.*1078del rs3214264 0.02123
NM_172364.5(CACNA2D4):c.*1624G>C rs59734486 0.01973
NM_172364.5(CACNA2D4):c.2065A>G (p.Ile689Val) rs76224631 0.01557
NM_172364.5(CACNA2D4):c.2087A>G (p.His696Arg) rs115228472 0.01555
NM_172364.5(CACNA2D4):c.-91G>A rs76066543 0.01383
NM_172364.5(CACNA2D4):c.*1557A>C rs58494350 0.01105
NM_172364.5(CACNA2D4):c.-72C>T rs73595529 0.01105
NM_172364.5(CACNA2D4):c.487-4C>T rs60194757 0.01079
NM_172364.5(CACNA2D4):c.*1556T>C rs12303097 0.00963
NM_172364.5(CACNA2D4):c.*796G>A rs7956914 0.00961
NM_172364.5(CACNA2D4):c.*1217C>G rs151263240 0.00865
NM_172364.5(CACNA2D4):c.2152+13C>T rs143736778 0.00855
NM_172364.5(CACNA2D4):c.912G>A (p.Gly304=) rs74699105 0.00791
NM_172364.5(CACNA2D4):c.1508G>A (p.Ser503Asn) rs77736644 0.00781
NM_172364.5(CACNA2D4):c.2588G>A (p.Arg863His) rs36077411 0.00630
NM_172364.5(CACNA2D4):c.2606C>T (p.Thr869Met) rs35331095 0.00625
NM_172364.5(CACNA2D4):c.3065C>T (p.Pro1022Leu) rs61741336 0.00623
NM_172364.5(CACNA2D4):c.2109G>C (p.Glu703Asp) rs77175207 0.00615
NM_172364.5(CACNA2D4):c.2987T>C (p.Phe996Ser) rs55971855 0.00530
NM_172364.5(CACNA2D4):c.*1596G>A rs114262354 0.00523
NM_172364.5(CACNA2D4):c.2189C>T (p.Ala730Val) rs181994120 0.00442
NM_172364.5(CACNA2D4):c.139G>A (p.Val47Met) rs74606734 0.00424
NM_172364.5(CACNA2D4):c.1940+15C>T rs114870926 0.00397
NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His) rs76064926 0.00329
NM_172364.5(CACNA2D4):c.3310-8G>A rs186998620 0.00315
NM_172364.5(CACNA2D4):c.2187C>T (p.Asp729=) rs78335326 0.00301
NM_172364.5(CACNA2D4):c.2239A>G (p.Met747Val) rs34007338 0.00255
NM_172364.5(CACNA2D4):c.*1597G>C rs115232565 0.00237
NM_172364.5(CACNA2D4):c.2009-3C>T rs185220718 0.00233
NM_172364.5(CACNA2D4):c.2891C>T (p.Ala964Val) rs201325274 0.00231
NM_172364.5(CACNA2D4):c.2921+7G>C rs202022529 0.00229
NM_172364.5(CACNA2D4):c.*583G>C rs185774215 0.00220
NM_172364.5(CACNA2D4):c.-174C>T rs374494829 0.00214
NM_172364.5(CACNA2D4):c.3356C>T (p.Pro1119Leu) rs145150489 0.00210
NM_172364.5(CACNA2D4):c.*123A>G rs188926382 0.00200
NM_172364.5(CACNA2D4):c.-54G>A rs184264198 0.00163
NM_172364.5(CACNA2D4):c.2095C>T (p.Leu699Phe) rs151121191 0.00130
NM_172364.5(CACNA2D4):c.*1403C>G rs148710446 0.00099
NM_172364.5(CACNA2D4):c.*1200C>T rs527521690 0.00084
NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter) rs200098356 0.00078
NM_172364.5(CACNA2D4):c.1218C>T (p.Gly406=) rs200027649 0.00075
NM_172364.5(CACNA2D4):c.2634G>A (p.Pro878=) rs375552481 0.00074
NM_172364.5(CACNA2D4):c.2649C>T (p.Cys883=) rs184770223 0.00060
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter) rs71454844 0.00057
NM_172364.5(CACNA2D4):c.*18T>G rs182021586 0.00042
NM_172364.5(CACNA2D4):c.2190G>A (p.Ala730=) rs200973567 0.00042
NM_172364.5(CACNA2D4):c.3348A>T (p.Ser1116=) rs368886623 0.00038
NM_172364.5(CACNA2D4):c.*1271C>T rs562507767 0.00034
NM_172364.5(CACNA2D4):c.1562C>T (p.Thr521Met) rs376351407 0.00032
NM_172364.5(CACNA2D4):c.1295T>C (p.Ile432Thr) rs200480596 0.00029
NM_172364.5(CACNA2D4):c.2307C>A (p.Ser769Arg) rs201035458 0.00029
NM_172364.5(CACNA2D4):c.*1177G>A rs556623869 0.00022
NM_172364.5(CACNA2D4):c.1216G>A (p.Gly406Ser) rs375148197 0.00020
NM_172364.5(CACNA2D4):c.2523C>T (p.Thr841=) rs377756881 0.00017
NM_172364.5(CACNA2D4):c.2246+11G>A rs779480579 0.00016
NM_172364.5(CACNA2D4):c.2516C>T (p.Ala839Val) rs146752598 0.00016
NM_172364.5(CACNA2D4):c.2170C>T (p.Arg724Trp) rs371178386 0.00015
NM_172364.5(CACNA2D4):c.227+11C>T rs75470223 0.00015
NM_172364.5(CACNA2D4):c.2524G>A (p.Val842Met) rs200977656 0.00015
NM_172364.5(CACNA2D4):c.*1613T>C rs767458623 0.00014
NM_172364.5(CACNA2D4):c.1563G>A (p.Thr521=) rs11062013 0.00014
NM_172364.5(CACNA2D4):c.2515G>T (p.Ala839Ser) rs756604812 0.00011
NM_172364.5(CACNA2D4):c.593T>A (p.Leu198Gln) rs200563551 0.00011
NM_172364.5(CACNA2D4):c.*1497G>C rs188409584 0.00010
NM_172364.5(CACNA2D4):c.892G>A (p.Val298Met) rs371792930 0.00010
NM_172364.5(CACNA2D4):c.1968C>T (p.His656=) rs200706568 0.00009
NM_172364.5(CACNA2D4):c.2688C>T (p.Asn896=) rs755996321 0.00009
NM_172364.5(CACNA2D4):c.318G>A (p.Lys106=) rs528334716 0.00009
NM_172364.5(CACNA2D4):c.1219G>A (p.Ala407Thr) rs755825391 0.00008
NM_172364.5(CACNA2D4):c.*1632G>A rs867293238 0.00007
NM_172364.5(CACNA2D4):c.1368C>T (p.Ile456=) rs745670628 0.00007
NM_172364.5(CACNA2D4):c.2498C>T (p.Thr833Met) rs532757608 0.00007
NM_172364.5(CACNA2D4):c.255C>T (p.Gly85=) rs375466678 0.00007
NM_172364.5(CACNA2D4):c.*425G>A rs886049120 0.00006
NM_172364.5(CACNA2D4):c.911G>A (p.Gly304Glu) rs374471043 0.00006
NM_172364.5(CACNA2D4):c.2037G>C (p.Leu679=) rs149879416 0.00005
NM_172364.5(CACNA2D4):c.2054+4A>T rs200648405 0.00005
NM_172364.5(CACNA2D4):c.2260G>A (p.Val754Met) rs373032354 0.00005
NM_172364.5(CACNA2D4):c.3309+6G>A rs778274349 0.00005
NM_172364.5(CACNA2D4):c.-151G>T rs749175092 0.00004
NM_172364.5(CACNA2D4):c.1497G>A (p.Ser499=) rs181731184 0.00004
NM_172364.5(CACNA2D4):c.2470+12C>T rs769265675 0.00004
NM_172364.5(CACNA2D4):c.2552-1G>A rs920314861 0.00004
NM_172364.5(CACNA2D4):c.3339G>A (p.Ser1113=) rs371916321 0.00004
NM_172364.5(CACNA2D4):c.837C>T (p.Arg279=) rs545533620 0.00004
NM_172364.5(CACNA2D4):c.*1488C>T rs886049114 0.00003
NM_172364.5(CACNA2D4):c.2714C>T (p.Ser905Phe) rs372942250 0.00003
NM_172364.5(CACNA2D4):c.*1364T>C rs886049115 0.00002
NM_172364.5(CACNA2D4):c.1288T>C (p.Tyr430His) rs369528514 0.00002
NM_172364.5(CACNA2D4):c.1711C>T (p.Arg571Trp) rs376257275 0.00002
NM_172364.5(CACNA2D4):c.1926C>T (p.Ser642=) rs773736333 0.00002
NM_172364.5(CACNA2D4):c.2783T>A (p.Val928Glu) rs886049125 0.00002
NM_172364.5(CACNA2D4):c.*1245T>A rs1449642983 0.00001
NM_172364.5(CACNA2D4):c.*513G>A rs886049119 0.00001
NM_172364.5(CACNA2D4):c.*73G>C rs549574707 0.00001
NM_172364.5(CACNA2D4):c.*783A>G rs886049118 0.00001
NM_172364.5(CACNA2D4):c.-118G>A rs914689714 0.00001
NM_172364.5(CACNA2D4):c.1233C>T (p.Tyr411=) rs371892188 0.00001
NM_172364.5(CACNA2D4):c.1276C>T (p.Arg426Ter) rs764495319 0.00001
NM_172364.5(CACNA2D4):c.153G>A (p.Ser51=) rs893406669 0.00001
NM_172364.5(CACNA2D4):c.1617G>C (p.Glu539Asp) rs767999612 0.00001
NM_172364.5(CACNA2D4):c.1683T>C (p.Asn561=) rs886049129 0.00001
NM_172364.5(CACNA2D4):c.1883G>A (p.Arg628Gln) rs759766082 0.00001
NM_172364.5(CACNA2D4):c.1940+5G>A rs374475309 0.00001
NM_172364.5(CACNA2D4):c.2055-1G>A rs749463003 0.00001
NM_172364.5(CACNA2D4):c.2134A>G (p.Lys712Glu) rs771911683 0.00001
NM_172364.5(CACNA2D4):c.252C>T (p.Phe84=) rs752598542 0.00001
NM_172364.5(CACNA2D4):c.253G>A (p.Gly85Ser) rs555700156 0.00001
NM_172364.5(CACNA2D4):c.2552-3T>C rs754626893 0.00001
NM_172364.5(CACNA2D4):c.2587C>T (p.Arg863Cys) rs775588255 0.00001
NM_172364.5(CACNA2D4):c.2643G>C (p.Gln881His) rs1297124716 0.00001
NM_172364.5(CACNA2D4):c.2645G>C (p.Ser882Thr) rs536653523 0.00001
NM_172364.5(CACNA2D4):c.2870C>T (p.Pro957Leu) rs886049124 0.00001
NM_172364.5(CACNA2D4):c.2913G>C (p.Glu971Asp) rs886049123 0.00001
NM_172364.5(CACNA2D4):c.2922-9G>A rs756341043 0.00001
NM_172364.5(CACNA2D4):c.310-8C>G rs931193038 0.00001
NM_172364.5(CACNA2D4):c.3206A>T (p.Gln1069Leu) rs886049122 0.00001
NM_172364.5(CACNA2D4):c.3357G>A (p.Pro1119=) rs761902357 0.00001
NM_172364.5(CACNA2D4):c.403C>T (p.Arg135Trp) rs779055186 0.00001
NM_172364.5(CACNA2D4):c.954G>A (p.Leu318=) rs752700351 0.00001
NM_172364.5(CACNA2D4):c.997A>C (p.Asn333His) rs377754588 0.00001
NC_000012.12:g.1839550_1875411del
NM_172364.4(CACNA2D4):c.1720-74_2551+1189delinsTG
NM_172364.5(CACNA2D4):c.*1114G>A rs567383410
NM_172364.5(CACNA2D4):c.*112C>T rs886049121
NM_172364.5(CACNA2D4):c.*1202del rs57667551
NM_172364.5(CACNA2D4):c.*1334A>G rs574025393
NM_172364.5(CACNA2D4):c.*1428_*1429insGAG rs77487055
NM_172364.5(CACNA2D4):c.*1572G>C rs886049113
NM_172364.5(CACNA2D4):c.*1615G>C rs886049112
NM_172364.5(CACNA2D4):c.*1621G>C rs886049111
NM_172364.5(CACNA2D4):c.*1634A>T rs1862991606
NM_172364.5(CACNA2D4):c.*1690C>G rs533040733
NM_172364.5(CACNA2D4):c.*380C>G rs1863027110
NM_172364.5(CACNA2D4):c.*789A>G rs886049117
NM_172364.5(CACNA2D4):c.*954G>C rs886049116
NM_172364.5(CACNA2D4):c.-141C>A rs886049132
NM_172364.5(CACNA2D4):c.1239G>A (p.Pro413=) rs201783863
NM_172364.5(CACNA2D4):c.1239G>T (p.Pro413=) rs201783863
NM_172364.5(CACNA2D4):c.1272+11C>T rs1866092302
NM_172364.5(CACNA2D4):c.1272+13C>T rs529890510
NM_172364.5(CACNA2D4):c.1272+14G>A rs559637881
NM_172364.5(CACNA2D4):c.1359C>T (p.Tyr453=) rs573565912
NM_172364.5(CACNA2D4):c.1407C>G (p.Tyr469Ter) rs771184759
NM_172364.5(CACNA2D4):c.1563+11G>A rs141318501
NM_172364.5(CACNA2D4):c.1563+11G>T rs141318501
NM_172364.5(CACNA2D4):c.1589_1593del (p.Val530fs) rs772592088
NM_172364.5(CACNA2D4):c.1663G>A (p.Ala555Thr) rs1347668261
NM_172364.5(CACNA2D4):c.1879-63C>G rs2370057
NM_172364.5(CACNA2D4):c.1929C>A (p.Asp643Glu) rs779746536
NM_172364.5(CACNA2D4):c.2046C>G (p.Ala682=) rs116214586
NM_172364.5(CACNA2D4):c.2046C>T (p.Ala682=) rs116214586
NM_172364.5(CACNA2D4):c.2184T>A (p.Phe728Leu) rs886049128
NM_172364.5(CACNA2D4):c.2189C>G (p.Ala730Gly) rs181994120
NM_172364.5(CACNA2D4):c.2287C>T (p.Arg763Trp) rs774789475
NM_172364.5(CACNA2D4):c.2342+96C>A rs7137553
NM_172364.5(CACNA2D4):c.2373C>T (p.Ser791=) rs886049127
NM_172364.5(CACNA2D4):c.2470+11G>A rs886049126
NM_172364.5(CACNA2D4):c.2478G>T (p.Ala826=) rs376350677
NM_172364.5(CACNA2D4):c.2723C>T (p.Thr908Met) rs553620421
NM_172364.5(CACNA2D4):c.2854C>T (p.Gln952Ter)
NM_172364.5(CACNA2D4):c.2868+4_2868+7del rs760300917
NM_172364.5(CACNA2D4):c.2958C>G (p.Tyr986Ter) rs142964907
NM_172364.5(CACNA2D4):c.2974+1G>T rs1030373953
NM_172364.5(CACNA2D4):c.3038C>T (p.Thr1013Met) rs757844766
NM_172364.5(CACNA2D4):c.3045C>A (p.Tyr1015Ter) rs1178449456
NM_172364.5(CACNA2D4):c.3200T>C (p.Val1067Ala) rs1863099629
NM_172364.5(CACNA2D4):c.3227-1C>T
NM_172364.5(CACNA2D4):c.3310-4G>T rs80092457
NM_172364.5(CACNA2D4):c.3354G>A (p.Ser1118=) rs374485519
NM_172364.5(CACNA2D4):c.419C>G (p.Ala140Gly) rs202054008
NM_172364.5(CACNA2D4):c.419C>T (p.Ala140Val) rs202054008
NM_172364.5(CACNA2D4):c.684A>C (p.Glu228Asp) rs886049131
NM_172364.5(CACNA2D4):c.718A>G (p.Arg240Gly) rs886049130
NM_172364.5(CACNA2D4):c.75C>T (p.Leu25=) rs765645971
NM_172364.5(CACNA2D4):c.781+55_781+56insAAGAC rs59151112
NM_172364.5(CACNA2D4):c.846C>G (p.Tyr282Ter) rs776513970
NM_172364.5:c.(1719+1_1720-1)_(2551+1_2552-1)del
Single allele

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