ClinVar Miner

List of variants in gene CACNA2D4 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 420
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_172364.5(CACNA2D4):c.*1078del rs3214264 0.02123
NM_172364.5(CACNA2D4):c.487-4C>T rs60194757 0.01079
NM_172364.5(CACNA2D4):c.3065C>T (p.Pro1022Leu) rs61741336 0.00623
NM_172364.5(CACNA2D4):c.2987T>C (p.Phe996Ser) rs55971855 0.00530
NM_172364.5(CACNA2D4):c.3310-8G>A rs186998620 0.00315
NM_172364.5(CACNA2D4):c.888G>A (p.Val296=) rs192991525 0.00277
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.-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.2338G>A (p.Asp780Asn) rs148970681 0.00150
NM_172364.5(CACNA2D4):c.2499G>A (p.Thr833=) rs199688605 0.00144
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.1218C>T (p.Gly406=) rs200027649 0.00075
NM_172364.5(CACNA2D4):c.2649C>T (p.Cys883=) rs184770223 0.00060
NM_172364.5(CACNA2D4):c.486+20C>G rs371455210 0.00059
NM_172364.5(CACNA2D4):c.1351+9C>T rs139333711 0.00051
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.2600C>T (p.Ala867Val) rs201489881 0.00035
NM_172364.5(CACNA2D4):c.2722-10T>C rs575121085 0.00034
NM_172364.5(CACNA2D4):c.1509C>T (p.Ser503=) rs199888783 0.00030
NM_172364.5(CACNA2D4):c.1116C>T (p.Val372=) rs371049767 0.00029
NM_172364.5(CACNA2D4):c.1295T>C (p.Ile432Thr) rs200480596 0.00029
NM_172364.5(CACNA2D4):c.2246+19G>T rs758354588 0.00028
NM_172364.5(CACNA2D4):c.2736G>C (p.Leu912=) rs372098009 0.00022
NM_172364.5(CACNA2D4):c.816T>C (p.Ile272=) rs765740392 0.00019
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.2869-9C>T rs200330264 0.00015
NM_172364.5(CACNA2D4):c.1351+10G>A rs756499582 0.00014
NM_172364.5(CACNA2D4):c.1563G>A (p.Thr521=) rs11062013 0.00014
NM_172364.5(CACNA2D4):c.2552-15C>T rs748711696 0.00014
NM_172364.5(CACNA2D4):c.2889G>A (p.Thr963=) rs377704021 0.00014
NM_172364.5(CACNA2D4):c.1449C>T (p.His483=) rs368965832 0.00011
NM_172364.5(CACNA2D4):c.1807-4del rs756122685 0.00011
NM_172364.5(CACNA2D4):c.2047G>A (p.Gly683Ser) rs202195511 0.00011
NM_172364.5(CACNA2D4):c.3034G>A (p.Asp1012Asn) rs746617335 0.00011
NM_172364.5(CACNA2D4):c.1065A>G (p.Arg355=) rs200227702 0.00010
NM_172364.5(CACNA2D4):c.2613+14C>T rs191180407 0.00010
NM_172364.5(CACNA2D4):c.1158+13A>G rs374613940 0.00009
NM_172364.5(CACNA2D4):c.2172G>C (p.Arg724=) rs375113187 0.00009
NM_172364.5(CACNA2D4):c.897C>T (p.Ser299=) rs187962821 0.00009
NM_172364.5(CACNA2D4):c.1941-14_1941-13del rs751559280 0.00008
NM_172364.5(CACNA2D4):c.2009-18T>C rs371503511 0.00008
NM_172364.5(CACNA2D4):c.2975-7C>T rs377755809 0.00008
NM_172364.5(CACNA2D4):c.1352-4G>A rs550017158 0.00007
NM_172364.5(CACNA2D4):c.1368C>T (p.Ile456=) rs745670628 0.00007
NM_172364.5(CACNA2D4):c.2153-19C>T rs369114604 0.00007
NM_172364.5(CACNA2D4):c.2196G>A (p.Val732=) rs762809357 0.00006
NM_172364.5(CACNA2D4):c.2470+14C>T rs536736418 0.00006
NM_172364.5(CACNA2D4):c.2613+15G>A rs950045747 0.00006
NM_172364.5(CACNA2D4):c.2790C>T (p.Ser930=) rs779959638 0.00006
NM_172364.5(CACNA2D4):c.3334G>A (p.Ala1112Thr) rs755690994 0.00006
NM_172364.5(CACNA2D4):c.567G>A (p.Leu189=) rs370067777 0.00006
NM_172364.5(CACNA2D4):c.1352-5C>T rs375836779 0.00005
NM_172364.5(CACNA2D4):c.1917G>A (p.Thr639=) rs763400935 0.00005
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.2152+14G>A rs544873221 0.00005
NM_172364.5(CACNA2D4):c.2259C>T (p.His753=) rs774053401 0.00005
NM_172364.5(CACNA2D4):c.2342+13G>A rs767849183 0.00005
NM_172364.5(CACNA2D4):c.2342+18C>T rs751670993 0.00005
NM_172364.5(CACNA2D4):c.2470+15G>A rs745589449 0.00005
NM_172364.5(CACNA2D4):c.2974+11G>A rs374103364 0.00005
NM_172364.5(CACNA2D4):c.3012G>A (p.Lys1004=) rs375999337 0.00005
NM_172364.5(CACNA2D4):c.1497G>A (p.Ser499=) rs181731184 0.00004
NM_172364.5(CACNA2D4):c.1722C>T (p.Tyr574=) rs374467523 0.00004
NM_172364.5(CACNA2D4):c.2226G>A (p.Ala742=) rs143480461 0.00004
NM_172364.5(CACNA2D4):c.228-11T>C rs544472821 0.00004
NM_172364.5(CACNA2D4):c.2364C>T (p.Asp788=) rs755249762 0.00004
NM_172364.5(CACNA2D4):c.2397G>A (p.Pro799=) rs539350541 0.00004
NM_172364.5(CACNA2D4):c.2470+12C>T rs769265675 0.00004
NM_172364.5(CACNA2D4):c.2609G>A (p.Arg870Gln) rs754714905 0.00004
NM_172364.5(CACNA2D4):c.2658+13C>T rs370241088 0.00004
NM_172364.5(CACNA2D4):c.3090C>T (p.Ile1030=) rs931144061 0.00004
NM_172364.5(CACNA2D4):c.3226+13G>A rs374742324 0.00004
NM_172364.5(CACNA2D4):c.3339G>A (p.Ser1113=) rs371916321 0.00004
NM_172364.5(CACNA2D4):c.843-9T>C rs762438894 0.00004
NM_172364.5(CACNA2D4):c.1006G>A (p.Val336Ile) rs201441835 0.00003
NM_172364.5(CACNA2D4):c.1206C>T (p.Leu402=) rs1466117942 0.00003
NM_172364.5(CACNA2D4):c.1374G>A (p.Thr458=) rs183426606 0.00003
NM_172364.5(CACNA2D4):c.1557C>T (p.Asn519=) rs371069858 0.00003
NM_172364.5(CACNA2D4):c.2250G>A (p.Glu750=) rs750405281 0.00003
NM_172364.5(CACNA2D4):c.2551+8C>T rs376597005 0.00003
NM_172364.5(CACNA2D4):c.2739G>T (p.Gly913=) rs369468455 0.00003
NM_172364.5(CACNA2D4):c.2975-6G>A rs565275719 0.00003
NM_172364.5(CACNA2D4):c.3114-17C>T rs750964988 0.00003
NM_172364.5(CACNA2D4):c.1159-14T>G rs767615144 0.00002
NM_172364.5(CACNA2D4):c.1273-16G>A rs765628336 0.00002
NM_172364.5(CACNA2D4):c.1380G>A (p.Ala460=) rs756733827 0.00002
NM_172364.5(CACNA2D4):c.1632G>A (p.Ala544=) rs761547317 0.00002
NM_172364.5(CACNA2D4):c.1926C>T (p.Ser642=) rs773736333 0.00002
NM_172364.5(CACNA2D4):c.1983T>C (p.Leu661=) rs762401280 0.00002
NM_172364.5(CACNA2D4):c.2157C>T (p.Asp719=) rs545434568 0.00002
NM_172364.5(CACNA2D4):c.2244C>T (p.Ser748=) rs771296834 0.00002
NM_172364.5(CACNA2D4):c.2247-14T>C rs1028296498 0.00002
NM_172364.5(CACNA2D4):c.2343-8C>A rs1330416512 0.00002
NM_172364.5(CACNA2D4):c.2470+7C>T rs367689303 0.00002
NM_172364.5(CACNA2D4):c.258G>A (p.Gly86=) rs751761220 0.00002
NM_172364.5(CACNA2D4):c.2832G>A (p.Ser944=) rs375441882 0.00002
NM_172364.5(CACNA2D4):c.2970C>T (p.Ala990=) rs367684783 0.00002
NM_172364.5(CACNA2D4):c.3057G>A (p.Val1019=) rs778838766 0.00002
NM_172364.5(CACNA2D4):c.3153C>T (p.Leu1051=) rs765823931 0.00002
NM_172364.5(CACNA2D4):c.3192C>T (p.Phe1064=) rs769722812 0.00002
NM_172364.5(CACNA2D4):c.3227-11G>A rs751590950 0.00002
NM_172364.5(CACNA2D4):c.3309+19C>G rs371435516 0.00002
NM_172364.5(CACNA2D4):c.1005C>T (p.Tyr335=) rs760128576 0.00001
NM_172364.5(CACNA2D4):c.1110G>A (p.Val370=) rs368053737 0.00001
NM_172364.5(CACNA2D4):c.1158+15G>A rs780211262 0.00001
NM_172364.5(CACNA2D4):c.1212C>T (p.Ser404=) rs774495552 0.00001
NM_172364.5(CACNA2D4):c.1215C>T (p.Asp405=) rs1279555928 0.00001
NM_172364.5(CACNA2D4):c.1221C>T (p.Ala407=) rs748393407 0.00001
NM_172364.5(CACNA2D4):c.1233C>T (p.Tyr411=) rs371892188 0.00001
NM_172364.5(CACNA2D4):c.123C>T (p.Pro41=) rs747151454 0.00001
NM_172364.5(CACNA2D4):c.1352-20C>T rs772168906 0.00001
NM_172364.5(CACNA2D4):c.1395C>T (p.Asn465=) rs759708625 0.00001
NM_172364.5(CACNA2D4):c.1413C>T (p.His471=) rs78872077 0.00001
NM_172364.5(CACNA2D4):c.1437C>T (p.Ile479=) rs753329230 0.00001
NM_172364.5(CACNA2D4):c.1443C>T (p.His481=) rs756007755 0.00001
NM_172364.5(CACNA2D4):c.1486-21_1486-20del rs747744406 0.00001
NM_172364.5(CACNA2D4):c.1521C>T (p.Leu507=) rs1199767365 0.00001
NM_172364.5(CACNA2D4):c.153G>A (p.Ser51=) rs893406669 0.00001
NM_172364.5(CACNA2D4):c.1593G>C (p.Val531=) rs758312530 0.00001
NM_172364.5(CACNA2D4):c.1629G>A (p.Leu543=) rs1035699782 0.00001
NM_172364.5(CACNA2D4):c.1656C>T (p.His552=) rs371701676 0.00001
NM_172364.5(CACNA2D4):c.186C>T (p.Ser62=) rs761708784 0.00001
NM_172364.5(CACNA2D4):c.1879-19T>C rs1243838435 0.00001
NM_172364.5(CACNA2D4):c.187C>T (p.Leu63=) rs200865323 0.00001
NM_172364.5(CACNA2D4):c.1902T>C (p.Asn634=) rs1389593570 0.00001
NM_172364.5(CACNA2D4):c.1941-7C>T rs777082818 0.00001
NM_172364.5(CACNA2D4):c.2028C>T (p.His676=) rs369569957 0.00001
NM_172364.5(CACNA2D4):c.2171G>A (p.Arg724Gln) rs201084922 0.00001
NM_172364.5(CACNA2D4):c.2247-18G>A rs768308730 0.00001
NM_172364.5(CACNA2D4):c.2439C>T (p.Phe813=) rs1238015257 0.00001
NM_172364.5(CACNA2D4):c.2496G>C (p.Val832=) rs1224657825 0.00001
NM_172364.5(CACNA2D4):c.2514G>A (p.Val838=) rs777855259 0.00001
NM_172364.5(CACNA2D4):c.252C>T (p.Phe84=) rs752598542 0.00001
NM_172364.5(CACNA2D4):c.2551+9G>A rs183421147 0.00001
NM_172364.5(CACNA2D4):c.2552-16T>C rs1224687289 0.00001
NM_172364.5(CACNA2D4):c.2562C>A (p.Val854=) rs1359718600 0.00001
NM_172364.5(CACNA2D4):c.2589C>A (p.Arg863=) rs978184450 0.00001
NM_172364.5(CACNA2D4):c.2607G>A (p.Thr869=) rs999546293 0.00001
NM_172364.5(CACNA2D4):c.2614-9_2614-8insTA rs1233469724 0.00001
NM_172364.5(CACNA2D4):c.2859C>T (p.Pro953=) rs1383600826 0.00001
NM_172364.5(CACNA2D4):c.2922-9G>A rs756341043 0.00001
NM_172364.5(CACNA2D4):c.2958C>T (p.Tyr986=) rs142964907 0.00001
NM_172364.5(CACNA2D4):c.2974+7G>A rs976369811 0.00001
NM_172364.5(CACNA2D4):c.2996-11T>C rs775680741 0.00001
NM_172364.5(CACNA2D4):c.2996-8G>T rs767479883 0.00001
NM_172364.5(CACNA2D4):c.3099C>T (p.Cys1033=) rs767020808 0.00001
NM_172364.5(CACNA2D4):c.310-8C>G rs931193038 0.00001
NM_172364.5(CACNA2D4):c.3105C>T (p.Pro1035=) rs773758032 0.00001
NM_172364.5(CACNA2D4):c.3282A>G (p.Pro1094=) rs112604068 0.00001
NM_172364.5(CACNA2D4):c.3333C>T (p.Gly1111=) rs888475177 0.00001
NM_172364.5(CACNA2D4):c.3381T>C (p.Cys1127=) rs1389778374 0.00001
NM_172364.5(CACNA2D4):c.351G>A (p.Val117=) rs1427564450 0.00001
NM_172364.5(CACNA2D4):c.555C>T (p.Ala185=) rs957209600 0.00001
NM_172364.5(CACNA2D4):c.570G>A (p.Glu190=) rs780777492 0.00001
NM_172364.5(CACNA2D4):c.782-19C>T rs755184822 0.00001
NM_172364.5(CACNA2D4):c.842+12C>T rs748811703 0.00001
NM_172364.5(CACNA2D4):c.843-15C>T rs372085071 0.00001
NM_172364.5(CACNA2D4):c.891C>T (p.Asp297=) rs757244098 0.00001
NM_172364.5(CACNA2D4):c.903T>C (p.Ser301=) rs762681226 0.00001
NM_172364.5(CACNA2D4):c.924T>G (p.Thr308=) rs370718644 0.00001
NM_172364.5(CACNA2D4):c.993+17G>A rs1383286065 0.00001
NM_172364.5(CACNA2D4):c.994-16C>T rs756870046 0.00001
NM_172364.5(CACNA2D4):c.*1334A>G rs574025393
NM_172364.5(CACNA2D4):c.-2T>C
NM_172364.5(CACNA2D4):c.1017C>A (p.Ile339=) rs182502291
NM_172364.5(CACNA2D4):c.1017C>T (p.Ile339=)
NM_172364.5(CACNA2D4):c.1047G>A (p.Gln349=)
NM_172364.5(CACNA2D4):c.1050G>A (p.Ala350=)
NM_172364.5(CACNA2D4):c.1069-10C>T
NM_172364.5(CACNA2D4):c.1069-8C>A
NM_172364.5(CACNA2D4):c.1078C>T (p.Leu360=) rs2154449762
NM_172364.5(CACNA2D4):c.1092G>A (p.Glu364=)
NM_172364.5(CACNA2D4):c.1093T>C (p.Leu365=)
NM_172364.5(CACNA2D4):c.1159-11T>C
NM_172364.5(CACNA2D4):c.1159-19A>C rs1592733478
NM_172364.5(CACNA2D4):c.1159-4A>T
NM_172364.5(CACNA2D4):c.1159-7T>G rs766882065
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+13C>A rs529890510
NM_172364.5(CACNA2D4):c.1272+13C>T rs529890510
NM_172364.5(CACNA2D4):c.1272+20C>A
NM_172364.5(CACNA2D4):c.1272+20C>G
NM_172364.5(CACNA2D4):c.1273-20C>T
NM_172364.5(CACNA2D4):c.1351+10G>T
NM_172364.5(CACNA2D4):c.1351+12G>T
NM_172364.5(CACNA2D4):c.1351+8C>T
NM_172364.5(CACNA2D4):c.1351+8_1351+9del
NM_172364.5(CACNA2D4):c.1352-18C>G rs1432788700
NM_172364.5(CACNA2D4):c.1352-18C>T
NM_172364.5(CACNA2D4):c.1362G>A (p.Thr454=)
NM_172364.5(CACNA2D4):c.1392G>A (p.Glu464=)
NM_172364.5(CACNA2D4):c.1419C>T (p.Leu473=)
NM_172364.5(CACNA2D4):c.1473C>T (p.Tyr491=)
NM_172364.5(CACNA2D4):c.1485+19C>T
NM_172364.5(CACNA2D4):c.1486-19G>C
NM_172364.5(CACNA2D4):c.1563+11G>A rs141318501
NM_172364.5(CACNA2D4):c.1563+11G>T rs141318501
NM_172364.5(CACNA2D4):c.1564-14G>A rs780764776
NM_172364.5(CACNA2D4):c.1564-16G>A
NM_172364.5(CACNA2D4):c.156C>T (p.Ala52=)
NM_172364.5(CACNA2D4):c.1572T>C (p.His524=) rs1865938850
NM_172364.5(CACNA2D4):c.1620G>A (p.Leu540=)
NM_172364.5(CACNA2D4):c.1644+10G>C rs1037990675
NM_172364.5(CACNA2D4):c.1644+9G>T
NM_172364.5(CACNA2D4):c.1645-14C>A
NM_172364.5(CACNA2D4):c.1645-16C>T
NM_172364.5(CACNA2D4):c.1645-20_1645-15del rs983582237
NM_172364.5(CACNA2D4):c.1645-6T>C
NM_172364.5(CACNA2D4):c.1647T>G (p.Leu549=) rs1387936264
NM_172364.5(CACNA2D4):c.1704C>T (p.Pro568=)
NM_172364.5(CACNA2D4):c.1719+11_1719+13del
NM_172364.5(CACNA2D4):c.1719+19T>C
NM_172364.5(CACNA2D4):c.1719+8C>T rs2154449406
NM_172364.5(CACNA2D4):c.1764T>C (p.Ser588=) rs2154449284
NM_172364.5(CACNA2D4):c.1770T>C (p.Asp590=)
NM_172364.5(CACNA2D4):c.1776C>T (p.Ser592=)
NM_172364.5(CACNA2D4):c.1806+12A>C
NM_172364.5(CACNA2D4):c.180C>A (p.Gly60=) rs750406282
NM_172364.5(CACNA2D4):c.180C>T (p.Gly60=) rs750406282
NM_172364.5(CACNA2D4):c.183C>T (p.Thr61=)
NM_172364.5(CACNA2D4):c.1857G>C (p.Val619=)
NM_172364.5(CACNA2D4):c.1863T>C (p.Val621=)
NM_172364.5(CACNA2D4):c.1878+11A>G rs1865846950
NM_172364.5(CACNA2D4):c.1879-14G>T
NM_172364.5(CACNA2D4):c.1879-18C>A
NM_172364.5(CACNA2D4):c.189G>A (p.Leu63=)
NM_172364.5(CACNA2D4):c.1932C>T (p.Thr644=)
NM_172364.5(CACNA2D4):c.1940+10A>C rs1467198397
NM_172364.5(CACNA2D4):c.1940+10A>G rs1467198397
NM_172364.5(CACNA2D4):c.1941-10del
NM_172364.5(CACNA2D4):c.1953G>A (p.Val651=) rs2154448478
NM_172364.5(CACNA2D4):c.1956G>A (p.Leu652=)
NM_172364.5(CACNA2D4):c.1974A>G (p.Glu658=)
NM_172364.5(CACNA2D4):c.198G>A (p.Ala66=) rs745890420
NM_172364.5(CACNA2D4):c.198G>C (p.Ala66=)
NM_172364.5(CACNA2D4):c.1995G>A (p.Thr665=)
NM_172364.5(CACNA2D4):c.2008+15G>A
NM_172364.5(CACNA2D4):c.2008+18G>A
NM_172364.5(CACNA2D4):c.2008+7C>T
NM_172364.5(CACNA2D4):c.2008+8G>A
NM_172364.5(CACNA2D4):c.2009-15G>T rs1383638984
NM_172364.5(CACNA2D4):c.2009-19A>G rs1354636140
NM_172364.5(CACNA2D4):c.2009-8G>T rs984451896
NM_172364.5(CACNA2D4):c.2010C>G (p.Gly670=) rs2154448374
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.2055-16C>A rs2154448370
NM_172364.5(CACNA2D4):c.2136G>A (p.Lys712=)
NM_172364.5(CACNA2D4):c.213G>A (p.Lys71=)
NM_172364.5(CACNA2D4):c.2152+8C>G
NM_172364.5(CACNA2D4):c.2153-20_2153-9dup
NM_172364.5(CACNA2D4):c.2175G>A (p.Glu725=)
NM_172364.5(CACNA2D4):c.2229G>A (p.Leu743=)
NM_172364.5(CACNA2D4):c.2241G>A (p.Met747Ile)
NM_172364.5(CACNA2D4):c.2246+20_2246+27del rs761403035
NM_172364.5(CACNA2D4):c.2247-19C>T
NM_172364.5(CACNA2D4):c.2247-7C>T
NM_172364.5(CACNA2D4):c.2247G>T (p.Glu749Asp) rs1314490125
NM_172364.5(CACNA2D4):c.227+17A>T
NM_172364.5(CACNA2D4):c.227+18C>A rs2154454125
NM_172364.5(CACNA2D4):c.227+19C>T
NM_172364.5(CACNA2D4):c.2310C>T (p.Ser770=) rs1592707536
NM_172364.5(CACNA2D4):c.2343-13T>A
NM_172364.5(CACNA2D4):c.2343-15T>C
NM_172364.5(CACNA2D4):c.2343-20C>G
NM_172364.5(CACNA2D4):c.2383C>T (p.Leu795=) rs1404930260
NM_172364.5(CACNA2D4):c.2406C>T (p.Tyr802=) rs71454844
NM_172364.5(CACNA2D4):c.2442C>A (p.Val814=)
NM_172364.5(CACNA2D4):c.2470+13C>G
NM_172364.5(CACNA2D4):c.2471-12_2471-11del rs1865005593
NM_172364.5(CACNA2D4):c.2471-17T>C
NM_172364.5(CACNA2D4):c.2471-20G>C rs1308528409
NM_172364.5(CACNA2D4):c.2481T>C (p.Gly827=)
NM_172364.5(CACNA2D4):c.249C>G (p.Thr83=)
NM_172364.5(CACNA2D4):c.2508A>C (p.Thr836=)
NM_172364.5(CACNA2D4):c.2551+9G>C
NM_172364.5(CACNA2D4):c.2552-13T>C
NM_172364.5(CACNA2D4):c.2552-13_2552-10del
NM_172364.5(CACNA2D4):c.2552-7C>T
NM_172364.5(CACNA2D4):c.2553C>T (p.Ala851=)
NM_172364.5(CACNA2D4):c.2556G>T (p.Ala852=) rs779248650
NM_172364.5(CACNA2D4):c.2559C>A (p.Gly853=) rs1009598544
NM_172364.5(CACNA2D4):c.2565A>G (p.Gln855=) rs761676237
NM_172364.5(CACNA2D4):c.2595C>T (p.Phe865=) rs1224949989
NM_172364.5(CACNA2D4):c.2613+19C>G
NM_172364.5(CACNA2D4):c.2614-20G>C
NM_172364.5(CACNA2D4):c.2634G>T (p.Pro878=) rs375552481
NM_172364.5(CACNA2D4):c.264G>A (p.Leu88=)
NM_172364.5(CACNA2D4):c.2658+14G>A
NM_172364.5(CACNA2D4):c.2658+7T>C
NM_172364.5(CACNA2D4):c.2659-19C>T
NM_172364.5(CACNA2D4):c.2685C>T (p.Asn895=) rs2154445806
NM_172364.5(CACNA2D4):c.2721+9C>T rs1485947662
NM_172364.5(CACNA2D4):c.2722-11C>T rs2154445337
NM_172364.5(CACNA2D4):c.2722-28CT[4] rs776204790
NM_172364.5(CACNA2D4):c.2722-28CT[6]
NM_172364.5(CACNA2D4):c.2757C>T (p.Val919=)
NM_172364.5(CACNA2D4):c.2781G>T (p.Gly927=)
NM_172364.5(CACNA2D4):c.2792+14A>C
NM_172364.5(CACNA2D4):c.2792+15C>A rs1413938682
NM_172364.5(CACNA2D4):c.2792+18C>T rs1163142100
NM_172364.5(CACNA2D4):c.2793-10T>C
NM_172364.5(CACNA2D4):c.2793-16C>T
NM_172364.5(CACNA2D4):c.2793-7T>C
NM_172364.5(CACNA2D4):c.2817C>T (p.Ala939=) rs2154445307
NM_172364.5(CACNA2D4):c.2868+13C>T rs1446611938
NM_172364.5(CACNA2D4):c.2869-13C>T
NM_172364.5(CACNA2D4):c.2869-16A>G
NM_172364.5(CACNA2D4):c.2895C>T (p.Thr965=)
NM_172364.5(CACNA2D4):c.2902C>T (p.Leu968=)
NM_172364.5(CACNA2D4):c.2907G>A (p.Leu969=) rs2154445258
NM_172364.5(CACNA2D4):c.2914C>T (p.Leu972=)
NM_172364.5(CACNA2D4):c.2916G>A (p.Leu972=) rs945350787
NM_172364.5(CACNA2D4):c.2921+17_2921+18del
NM_172364.5(CACNA2D4):c.2921+5_2921+16dup
NM_172364.5(CACNA2D4):c.2922-4A>G rs2154445239
NM_172364.5(CACNA2D4):c.2974+10C>T
NM_172364.5(CACNA2D4):c.2974+14G>A
NM_172364.5(CACNA2D4):c.2974+18C>G rs2154445231
NM_172364.5(CACNA2D4):c.2974+9A>G rs2154445233
NM_172364.5(CACNA2D4):c.2975-10T>A
NM_172364.5(CACNA2D4):c.2975-14dup rs1863245869
NM_172364.5(CACNA2D4):c.2975-18G>A
NM_172364.5(CACNA2D4):c.2975-19G>T
NM_172364.5(CACNA2D4):c.2982T>C (p.Ser994=)
NM_172364.5(CACNA2D4):c.2995+8G>C
NM_172364.5(CACNA2D4):c.2996-11T>G rs775680741
NM_172364.5(CACNA2D4):c.2996-16_2996-15del rs2154445112
NM_172364.5(CACNA2D4):c.2996-18T>A
NM_172364.5(CACNA2D4):c.2996-9C>T rs369462143
NM_172364.5(CACNA2D4):c.303G>A (p.Leu101=)
NM_172364.5(CACNA2D4):c.3048C>T (p.Pro1016=)
NM_172364.5(CACNA2D4):c.3051G>A (p.Val1017=) rs2154445105
NM_172364.5(CACNA2D4):c.3066G>T (p.Pro1022=)
NM_172364.5(CACNA2D4):c.3069C>T (p.Ala1023=)
NM_172364.5(CACNA2D4):c.3087G>A (p.Gly1029=)
NM_172364.5(CACNA2D4):c.309+16C>G
NM_172364.5(CACNA2D4):c.3090C>A (p.Ile1030=) rs931144061
NM_172364.5(CACNA2D4):c.310-16C>T
NM_172364.5(CACNA2D4):c.310-20C>G rs2154452594
NM_172364.5(CACNA2D4):c.310-7C>G
NM_172364.5(CACNA2D4):c.3102G>A (p.Gly1034=) rs1054568189
NM_172364.5(CACNA2D4):c.3113+16G>T
NM_172364.5(CACNA2D4):c.3113+18C>T rs1234255028
NM_172364.5(CACNA2D4):c.3114-19C>T rs1863104526
NM_172364.5(CACNA2D4):c.3117A>G (p.Val1039=) rs2154445004
NM_172364.5(CACNA2D4):c.3138C>G (p.Pro1046=)
NM_172364.5(CACNA2D4):c.3141C>T (p.Asn1047=) rs1863102949
NM_172364.5(CACNA2D4):c.3147CCT[5] (p.Leu1053dup) rs528359746
NM_172364.5(CACNA2D4):c.3189C>T (p.Ile1063=)
NM_172364.5(CACNA2D4):c.3222C>T (p.Val1074=)
NM_172364.5(CACNA2D4):c.3226+16C>T rs2154444994
NM_172364.5(CACNA2D4):c.3226+18G>A
NM_172364.5(CACNA2D4):c.3234C>T (p.Ala1078=) rs2154444969
NM_172364.5(CACNA2D4):c.3249C>T (p.Asp1083=) rs2154444967
NM_172364.5(CACNA2D4):c.3252G>C (p.Arg1084=)
NM_172364.5(CACNA2D4):c.3306A>G (p.Pro1102=)
NM_172364.5(CACNA2D4):c.3309+15G>A
NM_172364.5(CACNA2D4):c.3310-10G>A rs2154444903
NM_172364.5(CACNA2D4):c.3310-4G>T rs80092457
NM_172364.5(CACNA2D4):c.3310-9C>T
NM_172364.5(CACNA2D4):c.3327C>T (p.Cys1109=) rs1289324671
NM_172364.5(CACNA2D4):c.3354G>A (p.Ser1118=) rs374485519
NM_172364.5(CACNA2D4):c.3363A>G (p.Leu1121=)
NM_172364.5(CACNA2D4):c.3378G>T (p.Val1126=)
NM_172364.5(CACNA2D4):c.3391C>T (p.Leu1131=) rs772322577
NM_172364.5(CACNA2D4):c.360G>A (p.Leu120=)
NM_172364.5(CACNA2D4):c.39C>T (p.Asn13=)
NM_172364.5(CACNA2D4):c.402G>A (p.Leu134=)
NM_172364.5(CACNA2D4):c.414C>T (p.Val138=) rs375841447
NM_172364.5(CACNA2D4):c.419C>T (p.Ala140Val) rs202054008
NM_172364.5(CACNA2D4):c.420G>A (p.Ala140=)
NM_172364.5(CACNA2D4):c.420G>T (p.Ala140=) rs182825786
NM_172364.5(CACNA2D4):c.426+7C>T rs1187115010
NM_172364.5(CACNA2D4):c.426+9G>T
NM_172364.5(CACNA2D4):c.427-8T>A
NM_172364.5(CACNA2D4):c.453C>T (p.Ala151=)
NM_172364.5(CACNA2D4):c.465C>T (p.His155=)
NM_172364.5(CACNA2D4):c.486+11C>T
NM_172364.5(CACNA2D4):c.486+14C>G
NM_172364.5(CACNA2D4):c.486+14C>T rs767498556
NM_172364.5(CACNA2D4):c.487-12C>G rs368298591
NM_172364.5(CACNA2D4):c.487-13C>T
NM_172364.5(CACNA2D4):c.487-16C>T
NM_172364.5(CACNA2D4):c.504G>A (p.Ser168=)
NM_172364.5(CACNA2D4):c.508C>T (p.Leu170=) rs2154452265
NM_172364.5(CACNA2D4):c.522G>A (p.Arg174=) rs1866707883
NM_172364.5(CACNA2D4):c.537C>T (p.Asn179=)
NM_172364.5(CACNA2D4):c.552C>A (p.Gly184=)
NM_172364.5(CACNA2D4):c.649+12_649+13delinsTT rs2154452232
NM_172364.5(CACNA2D4):c.649+13C>T rs183104882
NM_172364.5(CACNA2D4):c.650-17A>G
NM_172364.5(CACNA2D4):c.650-4T>C rs2154452134
NM_172364.5(CACNA2D4):c.654A>G (p.Pro218=)
NM_172364.5(CACNA2D4):c.730T>C (p.Leu244=)
NM_172364.5(CACNA2D4):c.750C>T (p.Gly250=) rs2154452097
NM_172364.5(CACNA2D4):c.756A>C (p.Ala252=)
NM_172364.5(CACNA2D4):c.75C>T (p.Leu25=) rs765645971
NM_172364.5(CACNA2D4):c.782-5C>A rs1320851159
NM_172364.5(CACNA2D4):c.782-9T>C rs2154449861
NM_172364.5(CACNA2D4):c.78A>T (p.Ala26=) rs2154454208
NM_172364.5(CACNA2D4):c.813C>A (p.Val271=)
NM_172364.5(CACNA2D4):c.816T>A (p.Ile272=)
NM_172364.5(CACNA2D4):c.834C>T (p.Asn278=) rs1866163507
NM_172364.5(CACNA2D4):c.842+8C>A rs1426611944
NM_172364.5(CACNA2D4):c.963G>A (p.Leu321=)
NM_172364.5(CACNA2D4):c.963G>C (p.Leu321=) rs557264328
NM_172364.5(CACNA2D4):c.993+7G>A

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.