ClinVar Miner

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

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Total variants: 153
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HGVS dbSNP
NM_000068.4(CACNA1A):c.3618_3620GGA[3] (p.Glu1210del) rs750826355
NM_000068.4(CACNA1A):c.3829_3831AAC[1] (p.Asn1278del) rs1085307864
NM_000068.4(CACNA1A):c.6648_6650CCA[5] (p.His2222_His2225del) rs759331923
NM_001127221.1(CACNA1A):c.1060C>T (p.Leu354Phe) rs1555767914
NM_001127221.1(CACNA1A):c.1105C>T (p.Arg369Trp) rs1057524457
NM_001127221.1(CACNA1A):c.1169A>G (p.Asn390Ser) rs1064795477
NM_001127221.1(CACNA1A):c.1171G>A (p.Gly391Arg) rs749309558
NM_001127221.1(CACNA1A):c.1213G>A (p.Ala405Thr) rs121908245
NM_001127221.1(CACNA1A):c.1225A>C (p.Thr409Pro) rs187259531
NM_001127221.1(CACNA1A):c.1255+2dup rs1555767190
NM_001127221.1(CACNA1A):c.1364G>A (p.Arg455Gln) rs561858384
NM_001127221.1(CACNA1A):c.1562A>G (p.Tyr521Cys) rs886039322
NM_001127221.1(CACNA1A):c.173_175del (p.Thr58del) rs1064795796
NM_001127221.1(CACNA1A):c.1785-5G>A rs1085307739
NM_001127221.1(CACNA1A):c.1892T>C (p.Leu631Ser) rs1057521564
NM_001127221.1(CACNA1A):c.2021T>C (p.Met674Thr) rs1064796036
NM_001127221.1(CACNA1A):c.2048G>T (p.Gly683Val) rs1057524618
NM_001127221.1(CACNA1A):c.2059G>A (p.Gly687Ser) rs1064795643
NM_001127221.1(CACNA1A):c.2065G>T (p.Val689Leu) rs762530372
NM_001127221.1(CACNA1A):c.2108-15C>T rs190471428
NM_001127221.1(CACNA1A):c.2261C>T (p.Ala754Val) rs200355966
NM_001127221.1(CACNA1A):c.2295G>C (p.Gln765His) rs747111223
NM_001127221.1(CACNA1A):c.2407C>A (p.Arg803Ser) rs760816963
NM_001127221.1(CACNA1A):c.2438G>A (p.Arg813Gln) rs953797733
NM_001127221.1(CACNA1A):c.2486A>G (p.Gln829Arg) rs753196787
NM_001127221.1(CACNA1A):c.2524G>T (p.Ala842Ser) rs1057522204
NM_001127221.1(CACNA1A):c.2609G>A (p.Arg870Gln) rs1057518589
NM_001127221.1(CACNA1A):c.2620G>C (p.Gly874Arg) rs750660386
NM_001127221.1(CACNA1A):c.2623T>G (p.Ser875Ala) rs751675055
NM_001127221.1(CACNA1A):c.2624C>T (p.Ser875Leu) rs1057522802
NM_001127221.1(CACNA1A):c.2732T>A (p.Leu911Gln) rs953766694
NM_001127221.1(CACNA1A):c.2732T>G (p.Leu911Arg) rs953766694
NM_001127221.1(CACNA1A):c.2752G>A (p.Glu918Lys) rs368081042
NM_001127221.1(CACNA1A):c.2757C>T (p.Gly919=) rs371757002
NM_001127221.1(CACNA1A):c.2768G>T (p.Arg923Leu) rs752824390
NM_001127221.1(CACNA1A):c.2791C>T (p.Arg931Trp) rs367882437
NM_001127221.1(CACNA1A):c.2815G>C (p.Gly939Arg) rs771423362
NM_001127221.1(CACNA1A):c.2836G>C (p.Gly946Arg) rs527593196
NM_001127221.1(CACNA1A):c.2860G>A (p.Gly954Arg) rs1057518292
NM_001127221.1(CACNA1A):c.2870G>A (p.Arg957Gln) rs551380805
NM_001127221.1(CACNA1A):c.2870G>T (p.Arg957Leu) rs551380805
NM_001127221.1(CACNA1A):c.2882C>T (p.Ala961Val) rs762396014
NM_001127221.1(CACNA1A):c.2899G>A (p.Glu967Lys) rs747456771
NM_001127221.1(CACNA1A):c.2927G>T (p.Arg976Leu) rs748418783
NM_001127221.1(CACNA1A):c.2963G>C (p.Arg988Pro) rs955869211
NM_001127221.1(CACNA1A):c.2985_2990dup (p.Gly996_Pro997dup) rs995883431
NM_001127221.1(CACNA1A):c.29C>T (p.Ala10Val) rs952757731
NM_001127221.1(CACNA1A):c.3028G>A (p.Ala1010Thr) rs1555755834
NM_001127221.1(CACNA1A):c.3046G>A (p.Gly1016Arg) rs190551509
NM_001127221.1(CACNA1A):c.3052G>C (p.Ala1018Pro) rs1131691393
NM_001127221.1(CACNA1A):c.3082C>G (p.Arg1028Gly) rs1064794406
NM_001127221.1(CACNA1A):c.3122C>T (p.Ser1041Leu) rs776628272
NM_001127221.1(CACNA1A):c.3169C>T (p.Arg1057Cys) rs187393245
NM_001127221.1(CACNA1A):c.3173A>C (p.Gln1058Pro) rs1273138619
NM_001127221.1(CACNA1A):c.3229G>A (p.Ala1077Thr) rs554091859
NM_001127221.1(CACNA1A):c.329C>T (p.Ala110Val) rs1085307798
NM_001127221.1(CACNA1A):c.3358G>C (p.Ala1120Pro) rs199745070
NM_001127221.1(CACNA1A):c.3413C>G (p.Pro1138Arg) rs200333359
NM_001127221.1(CACNA1A):c.3416A>G (p.Lys1139Arg) rs746555911
NM_001127221.1(CACNA1A):c.3439G>A (p.Val1147Ile) rs376365775
NM_001127221.1(CACNA1A):c.3523T>G (p.Cys1175Gly) rs996509493
NM_001127221.1(CACNA1A):c.3532C>A (p.Pro1178Thr) rs1057522207
NM_001127221.1(CACNA1A):c.3533C>G (p.Pro1178Arg) rs201789073
NM_001127221.1(CACNA1A):c.3556+3G>T rs1057518586
NM_001127221.1(CACNA1A):c.3636A>C (p.Glu1212Asp) rs1555752275
NM_001127221.1(CACNA1A):c.3637G>T (p.Asp1213Tyr) rs201269793
NM_001127221.1(CACNA1A):c.3652A>G (p.Met1218Val) rs372017604
NM_001127221.1(CACNA1A):c.3659C>T (p.Pro1220Leu) rs573365997
NM_001127221.1(CACNA1A):c.3686C>T (p.Thr1229Met) rs1057518532
NM_001127221.1(CACNA1A):c.3704G>A (p.Arg1235His) rs373183625
NM_001127221.1(CACNA1A):c.3730C>T (p.Arg1244Cys) rs1057524818
NM_001127221.1(CACNA1A):c.3767T>C (p.Met1256Thr) rs1085307644
NM_001127221.1(CACNA1A):c.3806C>T (p.Pro1269Leu) rs1057522815
NM_001127221.1(CACNA1A):c.3809A>G (p.Asn1270Ser) rs997272721
NM_001127221.1(CACNA1A):c.4050G>T (p.Val1350=) rs1265632174
NM_001127221.1(CACNA1A):c.4284G>T (p.Glu1428Asp) rs768693060
NM_001127221.1(CACNA1A):c.4472A>G (p.Tyr1491Cys) rs1064795901
NM_001127221.1(CACNA1A):c.458T>C (p.Ile153Thr) rs369134549
NM_001127221.1(CACNA1A):c.4628C>T (p.Pro1543Leu) rs773901223
NM_001127221.1(CACNA1A):c.4665C>G (p.Phe1555Leu) rs182161386
NM_001127221.1(CACNA1A):c.4711A>T (p.Thr1571Ser) rs750368591
NM_001127221.1(CACNA1A):c.4839T>G (p.Cys1613Trp) rs781413708
NM_001127221.1(CACNA1A):c.4930G>A (p.Asp1644Asn) rs1064795531
NM_001127221.1(CACNA1A):c.5158G>A (p.Asp1720Asn) rs368257155
NM_001127221.1(CACNA1A):c.5173G>A (p.Asp1725Asn) rs371595464
NM_001127221.1(CACNA1A):c.5203G>A (p.Glu1735Lys) rs1064795744
NM_001127221.1(CACNA1A):c.526G>C (p.Val176Leu) rs1057521920
NM_001127221.1(CACNA1A):c.5471T>C (p.Leu1824Pro) rs1057521706
NM_001127221.1(CACNA1A):c.5474G>A (p.Gly1825Asp) rs1064795321
NM_001127221.1(CACNA1A):c.5482C>G (p.His1828Asp) rs1064795658
NM_001127221.1(CACNA1A):c.5491G>A (p.Glu1831Lys) rs746886324
NM_001127221.1(CACNA1A):c.5520C>A (p.Asp1840Glu) rs372083869
NM_001127221.1(CACNA1A):c.5524G>A (p.Ala1842Thr) rs753229469
NM_001127221.1(CACNA1A):c.5584C>T (p.Pro1862Ser) rs1057518533
NM_001127221.1(CACNA1A):c.5666A>G (p.Asn1889Ser) rs756378742
NM_001127221.1(CACNA1A):c.571_578delinsGAACT (p.Leu191_Thr193delinsGluLeu) rs1064795173
NM_001127221.1(CACNA1A):c.5758G>A (p.Asp1920Asn) rs1064794441
NM_001127221.1(CACNA1A):c.5771G>A (p.Arg1924Gln) rs771636070
NM_001127221.1(CACNA1A):c.5883G>A (p.Met1961Ile) rs1085307557
NM_001127221.1(CACNA1A):c.5933G>A (p.Arg1978His) rs1057521547
NM_001127221.1(CACNA1A):c.5948G>A (p.Arg1983Gln) rs745775887
NM_001127221.1(CACNA1A):c.5989A>G (p.Thr1997Ala) rs141963371
NM_001127221.1(CACNA1A):c.5990C>T (p.Thr1997Met) rs778274864
NM_001127221.1(CACNA1A):c.5C>T (p.Ala2Val) rs927310190
NM_001127221.1(CACNA1A):c.6004C>T (p.Pro2002Ser) rs751947412
NM_001127221.1(CACNA1A):c.6020T>G (p.Leu2007Arg) rs759624463
NM_001127221.1(CACNA1A):c.6058G>T (p.Ala2020Ser) rs1393616835
NM_001127221.1(CACNA1A):c.6064G>A (p.Glu2022Lys) rs202002033
NM_001127221.1(CACNA1A):c.6070G>A (p.Gly2024Ser) rs574805525
NM_001127221.1(CACNA1A):c.6128C>T (p.Thr2043Met) rs563345694
NM_001127221.1(CACNA1A):c.6163G>A (p.Asp2055Asn) rs761560224
NM_001127221.1(CACNA1A):c.6193-3C>A rs368480650
NM_001127221.1(CACNA1A):c.6206G>A (p.Arg2069Gln) rs769040794
NM_001127221.1(CACNA1A):c.6220G>A (p.Asp2074Asn) rs1057524336
NM_001127221.1(CACNA1A):c.6238G>A (p.Glu2080Lys) rs752513542
NM_001127221.1(CACNA1A):c.6320G>T (p.Arg2107Leu) rs373229577
NM_001127221.1(CACNA1A):c.632G>A (p.Ser211Asn) rs1085307866
NM_001127221.1(CACNA1A):c.6349T>G (p.Ser2117Ala) rs576057388
NM_001127221.1(CACNA1A):c.6403C>T (p.Arg2135Cys) rs121908235
NM_001127221.1(CACNA1A):c.6467G>A (p.Arg2156His) rs572722130
NM_001127221.1(CACNA1A):c.6467G>T (p.Arg2156Leu) rs572722130
NM_001127221.1(CACNA1A):c.6469C>T (p.Arg2157Cys) rs554393704
NM_001127221.1(CACNA1A):c.6470G>A (p.Arg2157His) rs755749925
NM_001127221.1(CACNA1A):c.6476G>A (p.Arg2159His) rs375859889
NM_001127221.1(CACNA1A):c.6497G>A (p.Arg2166His) rs727503832
NM_001127221.1(CACNA1A):c.6508C>T (p.Arg2170Cys) rs375354077
NM_001127221.1(CACNA1A):c.6530G>T (p.Gly2177Val) rs763045560
NM_001127221.1(CACNA1A):c.6578C>T (p.Ser2193Leu) rs1325697290
NM_001127221.1(CACNA1A):c.6587G>A (p.Arg2196Gln) rs373192655
NM_001127221.1(CACNA1A):c.6590_6601del (p.Asp2197_Arg2200del) rs763941704
NM_001127221.1(CACNA1A):c.6598C>T (p.Arg2200Trp) rs1477386827
NM_001127221.1(CACNA1A):c.6604C>T (p.Arg2202Trp) rs1032588483
NM_001127221.1(CACNA1A):c.6611A>G (p.Lys2204Arg) rs1057521770
NM_001127221.1(CACNA1A):c.6613G>A (p.Asp2205Asn) rs747673128
NM_001127221.1(CACNA1A):c.6633C>G (p.His2211Gln) rs1006425986
NM_001127221.1(CACNA1A):c.6649C>T (p.His2217Tyr) rs760470308
NM_001127221.1(CACNA1A):c.6650_6661del (p.His2217_His2220del) rs770368215
NM_001127221.1(CACNA1A):c.6653_6661del (p.His2218_His2220del) rs776181081
NM_001127221.1(CACNA1A):c.6659_6660delinsCC (p.His2220Pro) rs1085307607
NM_001127221.1(CACNA1A):c.6660delinsCCACCAC (p.His2219_His2220dup) rs1057518615
NM_001127221.1(CACNA1A):c.6662C>A (p.Pro2221His) rs16052
NM_001127221.1(CACNA1A):c.6665C>T (p.Pro2222Leu) rs778551911
NM_001127221.1(CACNA1A):c.6682C>T (p.Arg2228Cys) rs757715357
NM_001127221.1(CACNA1A):c.6683G>T (p.Arg2228Leu) rs1064793075
NM_001127221.1(CACNA1A):c.6697C>T (p.Arg2233Trp) rs751926317
NM_001127221.1(CACNA1A):c.6707A>G (p.His2236Arg) rs758639263
NM_001127221.1(CACNA1A):c.6734G>A (p.Arg2245His) rs1057521565
NM_001127221.1(CACNA1A):c.6763G>C (p.Glu2255Gln) rs779063280
NM_001127221.1(CACNA1A):c.6773C>G (p.Ala2258Gly) rs755099305
NM_001127221.1(CACNA1A):c.6778C>T (p.Arg2260Trp) rs750267834
NM_001127221.1(CACNA1A):c.6784-17A>G rs1289629816
NM_001127221.1(CACNA1A):c.680T>G (p.Leu227Arg) rs1057522420
NM_001127221.1(CACNA1A):c.833C>T (p.Ala278Val) rs1064796561

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