ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 469
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077 0.00022
NM_001127222.2(CACNA1A):c.5155G>A (p.Asp1719Asn) rs368257155 0.00010
NM_001127222.2(CACNA1A):c.1225A>C (p.Thr409Pro) rs187259531 0.00009
NM_001127222.2(CACNA1A):c.2104+6C>T rs372970603 0.00009
NM_001127222.2(CACNA1A):c.2105-15C>T rs190471428 0.00009
NM_001127222.2(CACNA1A):c.3166C>T (p.Arg1056Cys) rs187393245 0.00009
NM_001127222.2(CACNA1A):c.6694C>T (p.Arg2232Trp) rs751926317 0.00009
NM_001127222.2(CACNA1A):c.3368G>A (p.Arg1123Gln) rs769497214 0.00008
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr) rs201269793 0.00008
NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val) rs763045560 0.00008
NM_001127222.2(CACNA1A):c.2257G>A (p.Ala753Thr) rs17846944 0.00007
NM_001127222.2(CACNA1A):c.2783C>T (p.Pro928Leu) rs754998423 0.00007
NM_001127222.2(CACNA1A):c.2788C>T (p.Arg930Trp) rs367882437 0.00007
NM_001127222.2(CACNA1A):c.3063C>A (p.Asp1021Glu) rs1038705410 0.00007
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr) rs201666606 0.00006
NM_001127222.2(CACNA1A):c.2749G>A (p.Glu917Lys) rs368081042 0.00006
NM_001127222.2(CACNA1A):c.2812G>C (p.Gly938Arg) rs771423362 0.00006
NM_001127222.2(CACNA1A):c.5529-1245T>C rs368791169 0.00006
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly) rs771768635 0.00006
NM_001127222.2(CACNA1A):c.6266G>A (p.Arg2089Gln) rs1033214914 0.00006
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001127222.2(CACNA1A):c.6473G>A (p.Arg2158His) rs375859889 0.00005
NM_001127222.2(CACNA1A):c.1306G>A (p.Glu436Lys) rs759782636 0.00004
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_001127222.2(CACNA1A):c.2982_2987dup (p.Gly995_Pro996dup) rs995883431 0.00004
NM_001127222.2(CACNA1A):c.3106G>A (p.Gly1036Arg) rs762343454 0.00004
NM_001127222.2(CACNA1A):c.3622G>A (p.Asp1208Asn) rs750231498 0.00004
NM_001127222.2(CACNA1A):c.4371G>A (p.Thr1457=) rs368100270 0.00004
NM_001127222.2(CACNA1A):c.4879G>A (p.Asp1627Asn) rs573209959 0.00004
NM_001127222.2(CACNA1A):c.5095G>A (p.Ala1699Thr) rs371273055 0.00004
NM_001127222.2(CACNA1A):c.5529-1222T>C rs374688464 0.00004
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln) rs745775887 0.00004
NM_001127222.2(CACNA1A):c.6160G>A (p.Asp2054Asn) rs761560224 0.00004
NM_001127222.2(CACNA1A):c.6235G>A (p.Glu2079Lys) rs752513542 0.00004
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp) rs1032588483 0.00004
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys) rs375210532 0.00003
NM_001127222.2(CACNA1A):c.2765G>T (p.Arg922Leu) rs752824390 0.00003
NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln) rs768048563 0.00003
NM_001127222.2(CACNA1A):c.2879C>T (p.Ala960Val) rs762396014 0.00003
NM_001127222.2(CACNA1A):c.3017G>C (p.Arg1006Pro) rs1268938831 0.00003
NM_001127222.2(CACNA1A):c.3119C>T (p.Ser1040Leu) rs776628272 0.00003
NM_001127222.2(CACNA1A):c.3365G>A (p.Arg1122His) rs201647627 0.00003
NM_001127222.2(CACNA1A):c.3784G>A (p.Ala1262Thr) rs776503550 0.00003
NM_001127222.2(CACNA1A):c.5940+5G>A rs780060495 0.00003
NM_001127222.2(CACNA1A):c.6083C>G (p.Pro2028Arg) rs370345937 0.00003
NM_001127222.2(CACNA1A):c.6193G>A (p.Val2065Met) rs776203885 0.00003
NM_001127222.2(CACNA1A):c.6398G>A (p.Arg2133Gln) rs779044548 0.00003
NM_001127222.2(CACNA1A):c.6448C>T (p.Arg2150Trp) rs756780624 0.00003
NM_001127222.2(CACNA1A):c.6614G>A (p.Arg2205Gln) rs756685971 0.00003
NM_001127222.2(CACNA1A):c.6644A>C (p.His2215Pro) rs1233829101 0.00003
NM_001127222.2(CACNA1A):c.7160G>A (p.Gly2387Glu) rs1175823781 0.00003
NM_001127222.2(CACNA1A):c.1256-9T>C rs758786727 0.00002
NM_001127222.2(CACNA1A):c.2434C>T (p.Arg812Trp) rs369084322 0.00002
NM_001127222.2(CACNA1A):c.2483A>G (p.Gln828Arg) rs753196787 0.00002
NM_001127222.2(CACNA1A):c.2729T>G (p.Leu910Arg) rs953766694 0.00002
NM_001127222.2(CACNA1A):c.2754C>T (p.Gly918=) rs371757002 0.00002
NM_001127222.2(CACNA1A):c.2963G>A (p.Gly988Asp) rs1271411894 0.00002
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val) rs952757731 0.00002
NM_001127222.2(CACNA1A):c.3078T>A (p.His1026Gln) rs1202322408 0.00002
NM_001127222.2(CACNA1A):c.3142C>T (p.Arg1048Trp) rs753402026 0.00002
NM_001127222.2(CACNA1A):c.3436G>A (p.Val1146Ile) rs376365775 0.00002
NM_001127222.2(CACNA1A):c.4662C>G (p.Phe1554Leu) rs182161386 0.00002
NM_001127222.2(CACNA1A):c.5521G>A (p.Ala1841Thr) rs753229469 0.00002
NM_001127222.2(CACNA1A):c.5529-1267G>A rs141565870 0.00002
NM_001127222.2(CACNA1A):c.6101G>A (p.Arg2034His) rs369555957 0.00002
NM_001127222.2(CACNA1A):c.6220G>A (p.Gly2074Ser) rs376910068 0.00002
NM_001127222.2(CACNA1A):c.632G>A (p.Ser211Asn) rs1085307866 0.00002
NM_001127222.2(CACNA1A):c.6346T>G (p.Ser2116Ala) rs576057388 0.00002
NM_001127222.2(CACNA1A):c.6368G>C (p.Arg2123Pro) rs1220294928 0.00002
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130 0.00002
NM_001127222.2(CACNA1A):c.6610G>A (p.Asp2204Asn) rs747673128 0.00002
NM_001127222.2(CACNA1A):c.6646C>T (p.His2216Tyr) rs760470308 0.00002
NM_001127222.2(CACNA1A):c.1169A>G (p.Asn390Ser) rs1064795477 0.00001
NM_001127222.2(CACNA1A):c.1171G>A (p.Gly391Arg) rs749309558 0.00001
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr) rs121908245 0.00001
NM_001127222.2(CACNA1A):c.1327G>A (p.Ala443Thr) rs866479368 0.00001
NM_001127222.2(CACNA1A):c.1393T>G (p.Ser465Ala) rs1195950626 0.00001
NM_001127222.2(CACNA1A):c.1439G>A (p.Arg480His) rs761827501 0.00001
NM_001127222.2(CACNA1A):c.1551C>G (p.Phe517Leu) rs2058143598 0.00001
NM_001127222.2(CACNA1A):c.1559A>G (p.Tyr520Cys) rs886039322 0.00001
NM_001127222.2(CACNA1A):c.162G>A (p.Gln54=) rs762262807 0.00001
NM_001127222.2(CACNA1A):c.1643C>G (p.Ser548Cys) rs2058057381 0.00001
NM_001127222.2(CACNA1A):c.1782-5G>A rs1085307739 0.00001
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile) rs756562814 0.00001
NM_001127222.2(CACNA1A):c.2062G>T (p.Val688Leu) rs762530372 0.00001
NM_001127222.2(CACNA1A):c.2155G>A (p.Ala719Thr) rs1201483107 0.00001
NM_001127222.2(CACNA1A):c.2198C>T (p.Ala733Val) rs1335209785 0.00001
NM_001127222.2(CACNA1A):c.2258C>T (p.Ala753Val) rs200355966 0.00001
NM_001127222.2(CACNA1A):c.2281A>G (p.Lys761Glu) rs1196111017 0.00001
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser) rs760816963 0.00001
NM_001127222.2(CACNA1A):c.2435G>A (p.Arg812Gln) rs953797733 0.00001
NM_001127222.2(CACNA1A):c.2521G>T (p.Ala841Ser) rs1057522204 0.00001
NM_001127222.2(CACNA1A):c.2606G>A (p.Arg869Gln) rs1057518589 0.00001
NM_001127222.2(CACNA1A):c.2620T>G (p.Ser874Ala) rs751675055 0.00001
NM_001127222.2(CACNA1A):c.2672T>G (p.Leu891Arg) rs1171365113 0.00001
NM_001127222.2(CACNA1A):c.270C>T (p.Tyr90=) rs371957971 0.00001
NM_001127222.2(CACNA1A):c.2809G>C (p.Gly937Arg) rs746428515 0.00001
NM_001127222.2(CACNA1A):c.2827C>T (p.Arg943Cys) rs754979047 0.00001
NM_001127222.2(CACNA1A):c.2833G>A (p.Gly945Arg) rs527593196 0.00001
NM_001127222.2(CACNA1A):c.2872C>A (p.His958Asn) rs923472334 0.00001
NM_001127222.2(CACNA1A):c.2884C>T (p.Arg962Cys) rs532842904 0.00001
NM_001127222.2(CACNA1A):c.2932C>T (p.Arg978Trp) rs1361244265 0.00001
NM_001127222.2(CACNA1A):c.2938C>T (p.Arg980Cys) rs778978325 0.00001
NM_001127222.2(CACNA1A):c.3170A>C (p.Gln1057Pro) rs1273138619 0.00001
NM_001127222.2(CACNA1A):c.3364C>T (p.Arg1122Cys) rs774407963 0.00001
NM_001127222.2(CACNA1A):c.3377A>G (p.Asn1126Ser) rs755440575 0.00001
NM_001127222.2(CACNA1A):c.337A>G (p.Ile113Val) rs746955115 0.00001
NM_001127222.2(CACNA1A):c.3429C>G (p.Ser1143Arg) rs746195332 0.00001
NM_001127222.2(CACNA1A):c.345C>G (p.Leu115=) rs747917423 0.00001
NM_001127222.2(CACNA1A):c.3479C>T (p.Ala1160Val) rs766027931 0.00001
NM_001127222.2(CACNA1A):c.3520T>G (p.Cys1174Gly) rs996509493 0.00001
NM_001127222.2(CACNA1A):c.3656C>T (p.Pro1219Leu) rs573365997 0.00001
NM_001127222.2(CACNA1A):c.3683C>T (p.Thr1228Met) rs1057518532 0.00001
NM_001127222.2(CACNA1A):c.3803C>T (p.Pro1268Leu) rs1057522815 0.00001
NM_001127222.2(CACNA1A):c.3806A>G (p.Asn1269Ser) rs997272721 0.00001
NM_001127222.2(CACNA1A):c.4047G>T (p.Val1349=) rs1265632174 0.00001
NM_001127222.2(CACNA1A):c.4474G>A (p.Val1492Ile) rs121908234 0.00001
NM_001127222.2(CACNA1A):c.458T>C (p.Ile153Thr) rs369134549 0.00001
NM_001127222.2(CACNA1A):c.4646A>G (p.Gln1549Arg) rs759263620 0.00001
NM_001127222.2(CACNA1A):c.4786G>A (p.Ala1596Thr) rs769043258 0.00001
NM_001127222.2(CACNA1A):c.5015G>A (p.Arg1672His) rs1057519429 0.00001
NM_001127222.2(CACNA1A):c.5200G>A (p.Glu1734Lys) rs1064795744 0.00001
NM_001127222.2(CACNA1A):c.5529-1213C>G rs1186831509 0.00001
NM_001127222.2(CACNA1A):c.5635C>T (p.Arg1879Trp) rs746460335 0.00001
NM_001127222.2(CACNA1A):c.5768G>A (p.Arg1923Gln) rs771636070 0.00001
NM_001127222.2(CACNA1A):c.578C>T (p.Thr193Met) rs1365721398 0.00001
NM_001127222.2(CACNA1A):c.5854G>A (p.Val1952Met) rs749251058 0.00001
NM_001127222.2(CACNA1A):c.6017T>G (p.Leu2006Arg) rs759624463 0.00001
NM_001127222.2(CACNA1A):c.6051-9C>G rs1268738297 0.00001
NM_001127222.2(CACNA1A):c.6055G>T (p.Ala2019Ser) rs1393616835 0.00001
NM_001127222.2(CACNA1A):c.6217G>A (p.Asp2073Asn) rs1057524336 0.00001
NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu) rs751515136 0.00001
NM_001127222.2(CACNA1A):c.6281C>T (p.Pro2094Leu) rs769128653 0.00001
NM_001127222.2(CACNA1A):c.6326G>A (p.Gly2109Glu) rs868808043 0.00001
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu) rs750077868 0.00001
NM_001127222.2(CACNA1A):c.6444C>A (p.Asn2148Lys) rs780779363 0.00001
NM_001127222.2(CACNA1A):c.6469G>A (p.Asp2157Asn) rs1042634748 0.00001
NM_001127222.2(CACNA1A):c.6549G>A (p.Met2183Ile) rs1335828021 0.00001
NM_001127222.2(CACNA1A):c.6562G>A (p.Gly2188Arg) rs965819293 0.00001
NM_001127222.2(CACNA1A):c.6575C>T (p.Ser2192Leu) rs1325697290 0.00001
NM_001127222.2(CACNA1A):c.6595C>T (p.Arg2199Trp) rs1477386827 0.00001
NM_001127222.2(CACNA1A):c.6599G>A (p.Gly2200Asp) rs1163864338 0.00001
NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg) rs1057521770 0.00001
NM_001127222.2(CACNA1A):c.6629A>G (p.His2210Arg) rs1002423867 0.00001
NM_001127222.2(CACNA1A):c.6679C>T (p.Arg2227Cys) rs757715357 0.00001
NM_001127222.2(CACNA1A):c.6701del (p.Asp2234fs) rs1204175797 0.00001
NM_001127222.2(CACNA1A):c.6791C>T (p.Ser2264Phe) rs1267795318 0.00001
NM_001127222.2(CACNA1A):c.761C>A (p.Thr254Asn) rs1599292361 0.00001
NM_001127222.2(CACNA1A):c.832G>T (p.Ala278Ser) rs1013100046 0.00001
NM_001127222.2(CACNA1A):c.839C>T (p.Thr280Ile) rs1195270312 0.00001
NM_001127221.1(CACNA1A):c.6309_6311delGAG rs750511224
NM_001127221.2(CACNA1A):c.6659_6660delinsGC (p.His2220Arg) rs1085307607
NM_001127222.2(CACNA1A):c.106A>G (p.Ser36Gly)
NM_001127222.2(CACNA1A):c.1096G>A (p.Glu366Lys)
NM_001127222.2(CACNA1A):c.109C>G (p.Arg37Gly) rs780987148
NM_001127222.2(CACNA1A):c.1105C>T (p.Arg369Trp) rs1057524457
NM_001127222.2(CACNA1A):c.1106G>A (p.Arg369Gln)
NM_001127222.2(CACNA1A):c.1108G>T (p.Val370Leu)
NM_001127222.2(CACNA1A):c.1136T>G (p.Leu379Arg)
NM_001127222.2(CACNA1A):c.116G>A (p.Gly39Asp)
NM_001127222.2(CACNA1A):c.1220A>C (p.Asp407Ala)
NM_001127222.2(CACNA1A):c.1231G>C (p.Gly411Arg)
NM_001127222.2(CACNA1A):c.1231G>T (p.Gly411Trp) rs1448345243
NM_001127222.2(CACNA1A):c.1234G>C (p.Glu412Gln)
NM_001127222.2(CACNA1A):c.124C>T (p.Pro42Ser) rs2145192584
NM_001127222.2(CACNA1A):c.1255+2dup rs1555767190
NM_001127222.2(CACNA1A):c.1343T>C (p.Val448Ala)
NM_001127222.2(CACNA1A):c.1382A>C (p.Lys461Thr)
NM_001127222.2(CACNA1A):c.1396A>G (p.Thr466Ala) rs2145051461
NM_001127222.2(CACNA1A):c.1402T>C (p.Phe468Leu)
NM_001127222.2(CACNA1A):c.1418G>A (p.Arg473Lys) rs1401413921
NM_001127222.2(CACNA1A):c.1444A>G (p.Met482Val) rs1555762900
NM_001127222.2(CACNA1A):c.1465T>C (p.Tyr489His) rs1568528172
NM_001127222.2(CACNA1A):c.1520A>G (p.His507Arg)
NM_001127222.2(CACNA1A):c.1555+3_1555+6del rs2058143459
NM_001127222.2(CACNA1A):c.155T>C (p.Met52Thr)
NM_001127222.2(CACNA1A):c.1582C>T (p.Leu528Phe) rs2145030759
NM_001127222.2(CACNA1A):c.159G>A (p.Ala53=)
NM_001127222.2(CACNA1A):c.1609A>C (p.Met537Leu) rs2145030626
NM_001127222.2(CACNA1A):c.1615G>A (p.Gly539Arg) rs2145030587
NM_001127222.2(CACNA1A):c.1619T>G (p.Leu540Arg)
NM_001127222.2(CACNA1A):c.1655G>T (p.Cys552Phe) rs2058057217
NM_001127222.2(CACNA1A):c.165A>G (p.Arg55=) rs2145192452
NM_001127222.2(CACNA1A):c.1690G>A (p.Glu564Lys) rs1057519099
NM_001127222.2(CACNA1A):c.1706T>C (p.Val569Ala) rs2145005688
NM_001127222.2(CACNA1A):c.1724C>T (p.Ser575Phe)
NM_001127222.2(CACNA1A):c.173_175del (p.Thr58del) rs1064795796
NM_001127222.2(CACNA1A):c.1781A>C (p.Lys594Thr) rs2145005448
NM_001127222.2(CACNA1A):c.1822A>T (p.Asn608Tyr) rs1476877900
NM_001127222.2(CACNA1A):c.1825T>A (p.Ser609Thr)
NM_001127222.2(CACNA1A):c.1870A>G (p.Ile624Val) rs2145004096
NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile) rs1346036017
NM_001127222.2(CACNA1A):c.1885C>A (p.Leu629Ile) rs2145003975
NM_001127222.2(CACNA1A):c.1889T>C (p.Leu630Ser) rs1057521564
NM_001127222.2(CACNA1A):c.1923C>A (p.Phe641Leu)
NM_001127222.2(CACNA1A):c.1951G>T (p.Asp651Tyr) rs1244229103
NM_001127222.2(CACNA1A):c.1975A>G (p.Thr659Ala) rs2145002197
NM_001127222.2(CACNA1A):c.1978_1980del (p.Val660del) rs2057937382
NM_001127222.2(CACNA1A):c.1991T>C (p.Leu664Pro)
NM_001127222.2(CACNA1A):c.1996G>A (p.Gly666Ser) rs2144980934
NM_001127222.2(CACNA1A):c.1996G>C (p.Gly666Arg) rs2144980934
NM_001127222.2(CACNA1A):c.2011G>A (p.Glu671Lys) rs1434942721
NM_001127222.2(CACNA1A):c.2018T>C (p.Met673Thr) rs1064796036
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg) rs2144980758
NM_001127222.2(CACNA1A):c.2045G>T (p.Gly682Val) rs1057524618
NM_001127222.2(CACNA1A):c.2047G>A (p.Val683Met)
NM_001127222.2(CACNA1A):c.2056G>A (p.Gly686Ser) rs1064795643
NM_001127222.2(CACNA1A):c.2074T>C (p.Tyr692His) rs2144980511
NM_001127222.2(CACNA1A):c.2092C>T (p.Leu698Phe)
NM_001127222.2(CACNA1A):c.2144A>G (p.Asn715Ser) rs1555757432
NM_001127222.2(CACNA1A):c.2292G>C (p.Gln764His) rs747111223
NM_001127222.2(CACNA1A):c.2330G>A (p.Arg777Gln)
NM_001127222.2(CACNA1A):c.2352G>C (p.Gln784His) rs2144958118
NM_001127222.2(CACNA1A):c.2369G>A (p.Arg790Gln) rs2144957956
NM_001127222.2(CACNA1A):c.2374G>A (p.Ala792Thr)
NM_001127222.2(CACNA1A):c.2390T>C (p.Met797Thr) rs121908241
NM_001127222.2(CACNA1A):c.2395C>A (p.Pro799Thr) rs2144957730
NM_001127222.2(CACNA1A):c.2404C>T (p.Arg802Cys)
NM_001127222.2(CACNA1A):c.2426G>A (p.Arg809Gln) rs2057737782
NM_001127222.2(CACNA1A):c.2471T>A (p.Val824Glu)
NM_001127222.2(CACNA1A):c.2492G>C (p.Arg831Pro) rs1242675074
NM_001127222.2(CACNA1A):c.2495ACA[2] (p.Asn834del) rs750962335
NM_001127222.2(CACNA1A):c.2504_2506del (p.Thr835del) rs2144957032
NM_001127222.2(CACNA1A):c.2515C>T (p.Arg839Trp)
NM_001127222.2(CACNA1A):c.2549G>A (p.Gly850Asp) rs2144956644
NM_001127222.2(CACNA1A):c.2582_2599del (p.Gln861_Asp866del) rs767951499
NM_001127222.2(CACNA1A):c.2602G>A (p.Ala868Thr) rs1175516920
NM_001127222.2(CACNA1A):c.2617G>C (p.Gly873Arg) rs750660386
NM_001127222.2(CACNA1A):c.2621C>T (p.Ser874Leu) rs1057522802
NM_001127222.2(CACNA1A):c.2627G>C (p.Gly876Ala)
NM_001127222.2(CACNA1A):c.2683G>C (p.Gly895Arg) rs1358948688
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg) rs751726770
NM_001127222.2(CACNA1A):c.2729T>A (p.Leu910Gln) rs953766694
NM_001127222.2(CACNA1A):c.2755G>A (p.Glu919Lys) rs1555756130
NM_001127222.2(CACNA1A):c.2773G>A (p.Ala925Thr) rs2144954889
NM_001127222.2(CACNA1A):c.2789G>C (p.Arg930Pro) rs766234558
NM_001127222.2(CACNA1A):c.2807A>T (p.Gln936Leu) rs1179931638
NM_001127222.2(CACNA1A):c.2828G>A (p.Arg943His) rs753862352
NM_001127222.2(CACNA1A):c.2833G>C (p.Gly945Arg) rs527593196
NM_001127222.2(CACNA1A):c.2837C>T (p.Ser946Phe) rs1156960165
NM_001127222.2(CACNA1A):c.2857G>A (p.Gly953Arg) rs1057518292
NM_001127222.2(CACNA1A):c.2867G>A (p.Arg956Gln) rs551380805
NM_001127222.2(CACNA1A):c.2875C>T (p.Arg959Cys) rs2144953917
NM_001127222.2(CACNA1A):c.2893G>C (p.Gly965Arg)
NM_001127222.2(CACNA1A):c.2896G>A (p.Glu966Lys) rs747456771
NM_001127222.2(CACNA1A):c.2903G>A (p.Gly968Asp)
NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu) rs748418783
NM_001127222.2(CACNA1A):c.2930C>T (p.Ala977Val) rs1432898385
NM_001127222.2(CACNA1A):c.2933G>C (p.Arg978Pro)
NM_001127222.2(CACNA1A):c.2936_2938dup (p.His979dup) rs2144953287
NM_001127222.2(CACNA1A):c.2938C>G (p.Arg980Gly) rs778978325
NM_001127222.2(CACNA1A):c.2939G>A (p.Arg980His) rs1422954956
NM_001127222.2(CACNA1A):c.2954C>T (p.Pro985Leu) rs1478798895
NM_001127222.2(CACNA1A):c.2957C>A (p.Ala986Asp)
NM_001127222.2(CACNA1A):c.2959C>T (p.Arg987Trp) rs1489702072
NM_001127222.2(CACNA1A):c.2960G>C (p.Arg987Pro) rs955869211
NM_001127222.2(CACNA1A):c.2968GAGGGC[1] (p.990EG[1]) rs764399373
NM_001127222.2(CACNA1A):c.2986C>G (p.Pro996Ala)
NM_001127222.2(CACNA1A):c.3017G>A (p.Arg1006Gln) rs1268938831
NM_001127222.2(CACNA1A):c.3025G>A (p.Ala1009Thr) rs1555755834
NM_001127222.2(CACNA1A):c.3025G>T (p.Ala1009Ser)
NM_001127222.2(CACNA1A):c.3034_3048del (p.Thr1012_Asp1016del)
NM_001127222.2(CACNA1A):c.3046G>A (p.Asp1016Asn) rs2057719269
NM_001127222.2(CACNA1A):c.3049G>C (p.Ala1017Pro) rs1131691393
NM_001127222.2(CACNA1A):c.3055_3057delinsGGA (p.Arg1019Gly)
NM_001127222.2(CACNA1A):c.3058_3075dup (p.Arg1025_His1026insGluAspLysGluArgArg)
NM_001127222.2(CACNA1A):c.3061G>A (p.Asp1021Asn) rs2144951917
NM_001127222.2(CACNA1A):c.3075G>T (p.Arg1025Ser) rs1327191177
NM_001127222.2(CACNA1A):c.3079C>G (p.Arg1027Gly) rs1064794406
NM_001127222.2(CACNA1A):c.3085A>G (p.Arg1029Gly)
NM_001127222.2(CACNA1A):c.3086G>A (p.Arg1029Lys)
NM_001127222.2(CACNA1A):c.3101G>A (p.Gly1034Asp) rs2144889565
NM_001127222.2(CACNA1A):c.3124C>A (p.Pro1042Thr) rs2057414935
NM_001127222.2(CACNA1A):c.317C>T (p.Ala106Val)
NM_001127222.2(CACNA1A):c.3241C>T (p.Pro1081Ser) rs1467243087
NM_001127222.2(CACNA1A):c.3280C>T (p.Pro1094Ser) rs761596969
NM_001127222.2(CACNA1A):c.329C>T (p.Ala110Val) rs1085307798
NM_001127222.2(CACNA1A):c.3325A>T (p.Ile1109Phe) rs1568495538
NM_001127222.2(CACNA1A):c.3355G>C (p.Ala1119Pro) rs199745070
NM_001127222.2(CACNA1A):c.3367C>T (p.Arg1123Trp) rs775079497
NM_001127222.2(CACNA1A):c.3399T>G (p.Asn1133Lys)
NM_001127222.2(CACNA1A):c.3413A>G (p.Lys1138Arg) rs746555911
NM_001127222.2(CACNA1A):c.3416C>T (p.Thr1139Ile) rs2144887603
NM_001127222.2(CACNA1A):c.3431T>C (p.Leu1144Pro) rs1600245588
NM_001127222.2(CACNA1A):c.3451G>C (p.Gly1151Arg)
NM_001127222.2(CACNA1A):c.3464A>G (p.Asn1155Ser) rs992828062
NM_001127222.2(CACNA1A):c.3467C>T (p.Ser1156Leu)
NM_001127222.2(CACNA1A):c.3523C>T (p.Pro1175Ser)
NM_001127222.2(CACNA1A):c.3527C>A (p.Pro1176His)
NM_001127222.2(CACNA1A):c.3529C>A (p.Pro1177Thr) rs1057522207
NM_001127222.2(CACNA1A):c.3529C>G (p.Pro1177Ala) rs1057522207
NM_001127222.2(CACNA1A):c.3529C>T (p.Pro1177Ser) rs1057522207
NM_001127222.2(CACNA1A):c.3530C>G (p.Pro1177Arg) rs201789073
NM_001127222.2(CACNA1A):c.3532C>A (p.Leu1178Ile) rs556266465
NM_001127222.2(CACNA1A):c.3535A>C (p.Asn1179His) rs964526144
NM_001127222.2(CACNA1A):c.3536A>G (p.Asn1179Ser) rs2144886914
NM_001127222.2(CACNA1A):c.3553+3G>T rs1057518586
NM_001127222.2(CACNA1A):c.3569A>G (p.Asn1190Ser)
NM_001127222.2(CACNA1A):c.3590A>C (p.Lys1197Thr)
NM_001127222.2(CACNA1A):c.3596A>G (p.Glu1199Gly)
NM_001127222.2(CACNA1A):c.35A>T (p.Tyr12Phe) rs994265107
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del) rs750826355
NM_001127222.2(CACNA1A):c.3625C>T (p.Arg1209Cys) rs781026181
NM_001127222.2(CACNA1A):c.3633A>C (p.Glu1211Asp) rs1555752275
NM_001127222.2(CACNA1A):c.3638G>A (p.Gly1213Asp)
NM_001127222.2(CACNA1A):c.3692C>T (p.Pro1231Leu)
NM_001127222.2(CACNA1A):c.3698G>A (p.Arg1233His)
NM_001127222.2(CACNA1A):c.3727C>T (p.Arg1243Cys) rs1057524818
NM_001127222.2(CACNA1A):c.3728G>A (p.Arg1243His)
NM_001127222.2(CACNA1A):c.372T>G (p.Asp124Glu)
NM_001127222.2(CACNA1A):c.3764T>C (p.Met1255Thr) rs1085307644
NM_001127222.2(CACNA1A):c.3770G>A (p.Ser1257Asn) rs2144871537
NM_001127222.2(CACNA1A):c.3775G>A (p.Ala1259Thr)
NM_001127222.2(CACNA1A):c.3797T>C (p.Val1266Ala) rs2144871393
NM_001127222.2(CACNA1A):c.37G>C (p.Gly13Arg)
NM_001127222.2(CACNA1A):c.3815G>A (p.Arg1272Gln) rs2057331138
NM_001127222.2(CACNA1A):c.3817AAC[1] (p.Asn1274del) rs1085307864
NM_001127222.2(CACNA1A):c.3820A>G (p.Asn1274Asp) rs2144871278
NM_001127222.2(CACNA1A):c.3856G>A (p.Val1286Ile)
NM_001127222.2(CACNA1A):c.3868G>C (p.Glu1290Gln) rs2144839606
NM_001127222.2(CACNA1A):c.4035_4043del (p.1346VLR[1])
NM_001127222.2(CACNA1A):c.4276A>G (p.Asn1426Asp) rs1005591842
NM_001127222.2(CACNA1A):c.4281G>T (p.Glu1427Asp) rs768693060
NM_001127222.2(CACNA1A):c.428T>A (p.Ile143Asn) rs2144936410
NM_001127222.2(CACNA1A):c.4298G>A (p.Arg1433Gln) rs2144758462
NM_001127222.2(CACNA1A):c.4337T>C (p.Leu1446Pro)
NM_001127222.2(CACNA1A):c.43G>A (p.Gly15Arg)
NM_001127222.2(CACNA1A):c.4448G>A (p.Arg1483His)
NM_001127222.2(CACNA1A):c.4469A>G (p.Tyr1490Cys) rs1064795901
NM_001127222.2(CACNA1A):c.4478A>G (p.Tyr1493Cys)
NM_001127222.2(CACNA1A):c.4527C>G (p.Ile1509Met) rs2144748282
NM_001127222.2(CACNA1A):c.455T>A (p.Ile152Asn)
NM_001127222.2(CACNA1A):c.4625C>T (p.Pro1542Leu) rs773901223
NM_001127222.2(CACNA1A):c.4643C>T (p.Pro1548Leu) rs1275097177
NM_001127222.2(CACNA1A):c.4669C>T (p.Arg1557Cys)
NM_001127222.2(CACNA1A):c.4684G>C (p.Val1562Leu) rs1568465560
NM_001127222.2(CACNA1A):c.4694C>T (p.Pro1565Leu)
NM_001127222.2(CACNA1A):c.4708A>T (p.Thr1570Ser) rs750368591
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val) rs2056510928
NM_001127222.2(CACNA1A):c.4726G>A (p.Ala1576Thr) rs2056510591
NM_001127222.2(CACNA1A):c.4738A>G (p.Ile1580Val)
NM_001127222.2(CACNA1A):c.4741G>A (p.Val1581Met)
NM_001127222.2(CACNA1A):c.4747A>C (p.Met1583Leu)
NM_001127222.2(CACNA1A):c.4760A>G (p.Tyr1587Cys)
NM_001127222.2(CACNA1A):c.4836T>G (p.Cys1612Trp) rs781413708
NM_001127222.2(CACNA1A):c.4916G>A (p.Gly1639Asp) rs2144691967
NM_001127222.2(CACNA1A):c.4950+6T>C
NM_001127222.2(CACNA1A):c.4975C>T (p.Leu1659Phe) rs2144649877
NM_001127222.2(CACNA1A):c.5021G>A (p.Gly1674Asp) rs895744093
NM_001127222.2(CACNA1A):c.5021G>T (p.Gly1674Val)
NM_001127222.2(CACNA1A):c.5068G>A (p.Ala1690Thr)
NM_001127222.2(CACNA1A):c.5098A>G (p.Met1700Val)
NM_001127222.2(CACNA1A):c.50C>G (p.Ser17Cys) rs931963287
NM_001127222.2(CACNA1A):c.5117C>T (p.Ala1706Val)
NM_001127222.2(CACNA1A):c.5133+5G>A rs2144647781
NM_001127222.2(CACNA1A):c.5165A>G (p.Asp1722Gly)
NM_001127222.2(CACNA1A):c.5171A>G (p.Asp1724Gly)
NM_001127222.2(CACNA1A):c.5182G>A (p.Asp1728Asn) rs1436816057
NM_001127222.2(CACNA1A):c.5213T>C (p.Phe1738Ser) rs2144646654
NM_001127222.2(CACNA1A):c.5216G>A (p.Arg1739Gln)
NM_001127222.2(CACNA1A):c.5236A>G (p.Met1746Val)
NM_001127222.2(CACNA1A):c.5249G>A (p.Arg1750Gln) rs781588570
NM_001127222.2(CACNA1A):c.5253T>G (p.Ser1751Arg) rs2144629875
NM_001127222.2(CACNA1A):c.5258C>G (p.Thr1753Ser)
NM_001127222.2(CACNA1A):c.526G>C (p.Val176Leu) rs1057521920
NM_001127222.2(CACNA1A):c.532C>G (p.Leu178Val)
NM_001127222.2(CACNA1A):c.5453G>C (p.Arg1818Pro) rs745900417
NM_001127222.2(CACNA1A):c.5455G>A (p.Asp1819Asn) rs867018315
NM_001127222.2(CACNA1A):c.5468T>C (p.Leu1823Pro) rs1057521706
NM_001127222.2(CACNA1A):c.5471G>A (p.Gly1824Asp) rs1064795321
NM_001127222.2(CACNA1A):c.5477A>G (p.His1826Arg) rs2055610097
NM_001127222.2(CACNA1A):c.5479C>G (p.His1827Asp) rs1064795658
NM_001127222.2(CACNA1A):c.5488G>A (p.Glu1830Lys) rs746886324
NM_001127222.2(CACNA1A):c.5494G>A (p.Val1832Met)
NM_001127222.2(CACNA1A):c.5517C>A (p.Asp1839Glu) rs372083869
NM_001127222.2(CACNA1A):c.5529-1210G>A rs1001063428
NM_001127222.2(CACNA1A):c.5529-1216C>T rs1057518533
NM_001127222.2(CACNA1A):c.5529-1225A>G rs1432354078
NM_001127222.2(CACNA1A):c.5529-1233T>C rs2055562308
NM_001127222.2(CACNA1A):c.5529-1257A>G rs2144616863
NM_001127222.2(CACNA1A):c.5529-1263G>A rs770936656
NM_001127222.2(CACNA1A):c.562G>C (p.Glu188Gln) rs2059326934
NM_001127222.2(CACNA1A):c.5636G>A (p.Arg1879Gln) rs1010331313
NM_001127222.2(CACNA1A):c.5654C>G (p.Ala1885Gly)
NM_001127222.2(CACNA1A):c.5659G>T (p.Asp1887Tyr) rs2144595137
NM_001127222.2(CACNA1A):c.5663A>G (p.Asn1888Ser) rs756378742
NM_001127222.2(CACNA1A):c.5696T>C (p.Leu1899Pro)
NM_001127222.2(CACNA1A):c.5702G>A (p.Arg1901His) rs2144595024
NM_001127222.2(CACNA1A):c.571_578delinsGAACT (p.Leu191_Thr193delinsGluLeu) rs1064795173
NM_001127222.2(CACNA1A):c.5741A>G (p.Asp1914Gly)
NM_001127222.2(CACNA1A):c.5755G>A (p.Asp1919Asn) rs1064794441
NM_001127222.2(CACNA1A):c.5803C>A (p.Gln1935Lys) rs2144537491
NM_001127222.2(CACNA1A):c.5824G>A (p.Val1942Ile)
NM_001127222.2(CACNA1A):c.5827A>G (p.Thr1943Ala) rs2144537372
NM_001127222.2(CACNA1A):c.5880G>A (p.Met1960Ile) rs1085307557
NM_001127222.2(CACNA1A):c.5891A>G (p.Tyr1964Cys) rs1555732391
NM_001127222.2(CACNA1A):c.5897G>T (p.Arg1966Leu) rs199886234
NM_001127222.2(CACNA1A):c.589G>A (p.Val197Ile) rs1005884911
NM_001127222.2(CACNA1A):c.5924C>A (p.Ala1975Asp)
NM_001127222.2(CACNA1A):c.5930G>A (p.Arg1977His) rs1057521547
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001127222.2(CACNA1A):c.5944C>T (p.Arg1982Trp)
NM_001127222.2(CACNA1A):c.5948C>T (p.Thr1983Ile) rs947850652
NM_001127222.2(CACNA1A):c.5971G>C (p.Glu1991Gln) rs2054860673
NM_001127222.2(CACNA1A):c.602G>A (p.Arg201Gln) rs2059326410
NM_001127222.2(CACNA1A):c.6051-7C>G rs776664699
NM_001127222.2(CACNA1A):c.6058C>T (p.His2020Tyr) rs2144525195
NM_001127222.2(CACNA1A):c.6065G>A (p.Ser2022Asn) rs2144525162
NM_001127222.2(CACNA1A):c.6081C>A (p.Ser2027Arg) rs2144525037
NM_001127222.2(CACNA1A):c.611A>G (p.Lys204Arg) rs2144559219
NM_001127222.2(CACNA1A):c.6247C>T (p.Pro2083Ser) rs1244966977
NM_001127222.2(CACNA1A):c.6272C>T (p.Ala2091Val) rs377051916
NM_001127222.2(CACNA1A):c.6278T>C (p.Met2093Thr)
NM_001127222.2(CACNA1A):c.6304-13G>A
NM_001127222.2(CACNA1A):c.631+4C>T rs1568581241
NM_001127222.2(CACNA1A):c.6317G>T (p.Arg2106Leu) rs373229577
NM_001127222.2(CACNA1A):c.6323G>A (p.Arg2108His) rs867865729
NM_001127222.2(CACNA1A):c.6359C>T (p.Pro2120Leu)
NM_001127222.2(CACNA1A):c.6365A>G (p.Lys2122Arg) rs2144506548
NM_001127222.2(CACNA1A):c.6368G>A (p.Arg2123His) rs1220294928
NM_001127222.2(CACNA1A):c.6406G>C (p.Asp2136His) rs1173266790
NM_001127222.2(CACNA1A):c.6409G>A (p.Asp2137Asn) rs755880731
NM_001127222.2(CACNA1A):c.6419T>G (p.Leu2140Arg)
NM_001127222.2(CACNA1A):c.6425G>A (p.Arg2142Gln) rs1268148205
NM_001127222.2(CACNA1A):c.6448C>G (p.Arg2150Gly) rs756780624
NM_001127222.2(CACNA1A):c.6452_6463del (p.His2151_Arg2154del) rs1469809752
NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His) rs572722130
NM_001127222.2(CACNA1A):c.6466C>G (p.Arg2156Gly) rs554393704
NM_001127222.2(CACNA1A):c.6469G>C (p.Asp2157His)
NM_001127222.2(CACNA1A):c.6487T>G (p.Ser2163Ala)
NM_001127222.2(CACNA1A):c.6490G>C (p.Glu2164Gln)
NM_001127222.2(CACNA1A):c.6514G>A (p.Asp2172Asn) rs370289732
NM_001127222.2(CACNA1A):c.6514G>T (p.Asp2172Tyr) rs370289732
NM_001127222.2(CACNA1A):c.6515A>G (p.Asp2172Gly) rs2054713924
NM_001127222.2(CACNA1A):c.6529T>G (p.Leu2177Val)
NM_001127222.2(CACNA1A):c.6542T>C (p.Leu2181Pro) rs2144502972
NM_001127222.2(CACNA1A):c.6572C>A (p.Pro2191Gln)
NM_001127222.2(CACNA1A):c.6613C>G (p.Arg2205Gly) rs780467849
NM_001127222.2(CACNA1A):c.6613C>T (p.Arg2205Trp) rs780467849
NM_001127222.2(CACNA1A):c.6623_6628dup (p.Arg2208_Gln2209dup) rs1247003992
NM_001127222.2(CACNA1A):c.6627G>C (p.Gln2209His)
NM_001127222.2(CACNA1A):c.6627_6629dup (p.Gln2209_His2210insGln)
NM_001127222.2(CACNA1A):c.6627_6632dup (p.His2210_His2211insGlnHis)
NM_001127222.2(CACNA1A):c.6656_6657delinsCC (p.His2219Pro) rs1085307607
NM_001127222.2(CACNA1A):c.6657delinsCCAC (p.His2219dup) rs1057518615
NM_001127222.2(CACNA1A):c.6657delinsCCACCAC (p.His2218_His2219dup) rs1057518615
NM_001127222.2(CACNA1A):c.6664C>T (p.Pro2222Ser)
NM_001127222.2(CACNA1A):c.6666_6672del (p.Pro2223fs)
NM_001127222.2(CACNA1A):c.6680G>T (p.Arg2227Leu) rs1064793075
NM_001127222.2(CACNA1A):c.6682T>C (p.Tyr2228His)
NM_001127222.2(CACNA1A):c.6696dup (p.Pro2233fs) rs2144501188
NM_001127222.2(CACNA1A):c.6704A>G (p.His2235Arg) rs758639263
NM_001127222.2(CACNA1A):c.6781-12A>G rs1289629816
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg) rs1057522420
NM_001127222.2(CACNA1A):c.6848G>A (p.Arg2283His)
NM_001127222.2(CACNA1A):c.7282G>A (p.Glu2428Lys)
NM_001127222.2(CACNA1A):c.751A>G (p.Lys251Glu) rs2144522916
NM_001127222.2(CACNA1A):c.762C>T (p.Thr254=)
NM_001127222.2(CACNA1A):c.772G>A (p.Glu258Lys)
NM_001127222.2(CACNA1A):c.781A>G (p.Thr261Ala)
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr) rs1013100046
NM_001127222.2(CACNA1A):c.833C>T (p.Ala278Val) rs1064796561
NM_001127222.2(CACNA1A):c.853A>C (p.Thr285Pro) rs2145245518
NM_001127222.2(CACNA1A):c.865C>T (p.Pro289Ser)
NM_001127222.2(CACNA1A):c.880C>T (p.Pro294Ser)
NM_001127222.2(CACNA1A):c.904G>C (p.Asp302His) rs863224852
NM_001127222.2(CACNA1A):c.905A>G (p.Asp302Gly) rs2059067761
NM_001127222.2(CACNA1A):c.913C>T (p.Leu305=) rs1599276914
NM_001127222.2(CACNA1A):c.922G>C (p.Val308Leu) rs778912392

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