ClinVar Miner

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

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Total variants: 179
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HGVS dbSNP
NM_001127221.1(CACNA1A):c.1170T>A (p.Asn390Lys) rs768768744
NM_001127221.1(CACNA1A):c.1171G>A (p.Gly391Arg) rs749309558
NM_001127221.1(CACNA1A):c.1198+5G>A rs1568544895
NM_001127221.1(CACNA1A):c.1225A>C (p.Thr409Pro) rs187259531
NM_001127221.1(CACNA1A):c.1264C>T (p.Arg422Trp)
NM_001127221.1(CACNA1A):c.1294G>A (p.Asp432Asn)
NM_001127221.1(CACNA1A):c.1330G>A (p.Ala444Thr) rs866479368
NM_001127221.1(CACNA1A):c.1364G>A (p.Arg455Gln) rs561858384
NM_001127221.1(CACNA1A):c.1373T>A (p.Ile458Asn)
NM_001127221.1(CACNA1A):c.1397C>T (p.Ser466Leu)
NM_001127221.1(CACNA1A):c.1416G>C (p.Lys472Asn)
NM_001127221.1(CACNA1A):c.1447A>G (p.Met483Val) rs1555762900
NM_001127221.1(CACNA1A):c.1537G>C (p.Glu513Gln)
NM_001127221.1(CACNA1A):c.1591A>G (p.Met531Val)
NM_001127221.1(CACNA1A):c.1666T>C (p.Cys556Arg)
NM_001127221.1(CACNA1A):c.1886C>T (p.Ala629Val)
NM_001127221.1(CACNA1A):c.1913G>T (p.Gly638Val) rs121908246
NM_001127221.1(CACNA1A):c.2014G>A (p.Glu672Lys) rs1434942721
NM_001127221.1(CACNA1A):c.2136C>A (p.Ile712=)
NM_001127221.1(CACNA1A):c.235_237del (p.Phe79del) rs1568719711
NM_001127221.1(CACNA1A):c.2377G>T (p.Ala793Ser) rs753248182
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.2438G>T (p.Arg813Leu)
NM_001127221.1(CACNA1A):c.2494C>A (p.Arg832Ser) rs1464680327
NM_001127221.1(CACNA1A):c.2494C>T (p.Arg832Cys)
NM_001127221.1(CACNA1A):c.2504A>C (p.Asn835Thr)
NM_001127221.1(CACNA1A):c.2585_2602del (p.Gln862_Asp867del) rs767951499
NM_001127221.1(CACNA1A):c.2623T>G (p.Ser875Ala) rs751675055
NM_001127221.1(CACNA1A):c.2654C>T (p.Ala885Val)
NM_001127221.1(CACNA1A):c.2695G>A (p.Gly899Ser)
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.2758G>A (p.Glu920Lys)
NM_001127221.1(CACNA1A):c.2777C>T (p.Ala926Val)
NM_001127221.1(CACNA1A):c.2786C>T (p.Pro929Leu)
NM_001127221.1(CACNA1A):c.2791C>T (p.Arg931Trp) rs367882437
NM_001127221.1(CACNA1A):c.2800G>A (p.Val934Met)
NM_001127221.1(CACNA1A):c.2821A>G (p.Arg941Gly)
NM_001127221.1(CACNA1A):c.2860G>A (p.Gly954Arg) rs1057518292
NM_001127221.1(CACNA1A):c.2889C>T (p.Arg963=) rs1443085599
NM_001127221.1(CACNA1A):c.2912A>G (p.Glu971Gly) rs1555755916
NM_001127221.1(CACNA1A):c.2927G>A (p.Arg976Gln)
NM_001127221.1(CACNA1A):c.294-6C>A rs764502828
NM_001127221.1(CACNA1A):c.2941C>T (p.Arg981Cys)
NM_001127221.1(CACNA1A):c.2971_2976GAGGGC[1] (p.991_992EG[1]) rs764399373
NM_001127221.1(CACNA1A):c.2971_2976GAGGGC[2] (p.991_992EG[2]) rs764399373
NM_001127221.1(CACNA1A):c.29C>T (p.Ala10Val) rs952757731
NM_001127221.1(CACNA1A):c.3019C>T (p.Arg1007Trp)
NM_001127221.1(CACNA1A):c.3020G>C (p.Arg1007Pro) rs1268938831
NM_001127221.1(CACNA1A):c.3046G>A (p.Gly1016Arg) rs190551509
NM_001127221.1(CACNA1A):c.3056G>A (p.Arg1019Gln)
NM_001127221.1(CACNA1A):c.3056G>C (p.Arg1019Pro)
NM_001127221.1(CACNA1A):c.3066C>A (p.Asp1022Glu) rs1038705410
NM_001127221.1(CACNA1A):c.3070G>A (p.Glu1024Lys) rs1555755809
NM_001127221.1(CACNA1A):c.3103G>A (p.Gly1035Ser)
NM_001127221.1(CACNA1A):c.3167G>C (p.Gly1056Ala)
NM_001127221.1(CACNA1A):c.3170G>A (p.Arg1057His) rs200850308
NM_001127221.1(CACNA1A):c.3173A>C (p.Gln1058Pro) rs1273138619
NM_001127221.1(CACNA1A):c.3178C>T (p.Pro1060Ser)
NM_001127221.1(CACNA1A):c.3181C>T (p.Pro1061Ser) rs969592968
NM_001127221.1(CACNA1A):c.3229G>A (p.Ala1077Thr) rs554091859
NM_001127221.1(CACNA1A):c.322A>G (p.Ile108Val)
NM_001127221.1(CACNA1A):c.3230C>T (p.Ala1077Val) rs199512932
NM_001127221.1(CACNA1A):c.3236C>T (p.Ser1079Leu)
NM_001127221.1(CACNA1A):c.3241G>A (p.Ala1081Thr)
NM_001127221.1(CACNA1A):c.3265G>A (p.Ala1089Thr) rs371820430
NM_001127221.1(CACNA1A):c.3328A>T (p.Ile1110Phe) rs1568495538
NM_001127221.1(CACNA1A):c.3334G>T (p.Ala1112Ser) rs1215692574
NM_001127221.1(CACNA1A):c.3337A>C (p.Met1113Leu)
NM_001127221.1(CACNA1A):c.3371G>A (p.Arg1124Gln)
NM_001127221.1(CACNA1A):c.3412C>G (p.Pro1138Ala) rs199793367
NM_001127221.1(CACNA1A):c.3424G>A (p.Glu1142Lys)
NM_001127221.1(CACNA1A):c.3467A>G (p.Asn1156Ser)
NM_001127221.1(CACNA1A):c.3467A>T (p.Asn1156Ile) rs992828062
NM_001127221.1(CACNA1A):c.346G>A (p.Ala116Thr) rs778725158
NM_001127221.1(CACNA1A):c.3484A>G (p.Arg1162Gly)
NM_001127221.1(CACNA1A):c.3493G>A (p.Asp1165Asn) rs775838621
NM_001127221.1(CACNA1A):c.3535C>G (p.Leu1179Val)
NM_001127221.1(CACNA1A):c.3547G>A (p.Val1183Ile) rs369742607
NM_001127221.1(CACNA1A):c.3550G>A (p.Val1184Ile) rs373224251
NM_001127221.1(CACNA1A):c.3587C>T (p.Pro1196Leu) rs1568493631
NM_001127221.1(CACNA1A):c.3609_3611GGA[3] (p.Glu1207del) rs750826355
NM_001127221.1(CACNA1A):c.3625G>A (p.Asp1209Asn)
NM_001127221.1(CACNA1A):c.3696C>G (p.Pro1232=) rs1555751817
NM_001127221.1(CACNA1A):c.3704G>C (p.Arg1235Pro)
NM_001127221.1(CACNA1A):c.3787G>A (p.Ala1263Thr)
NM_001127221.1(CACNA1A):c.3790G>A (p.Glu1264Lys) rs1555751762
NM_001127221.1(CACNA1A):c.3817C>A (p.Arg1273=)
NM_001127221.1(CACNA1A):c.3817C>T (p.Arg1273Trp) rs372970430
NM_001127221.1(CACNA1A):c.3820_3822AAC[1] (p.Asn1275del) rs1085307864
NM_001127221.1(CACNA1A):c.3825C>T (p.Asn1275=) rs201230929
NM_001127221.1(CACNA1A):c.3929G>A (p.Arg1310His) rs1568485102
NM_001127221.1(CACNA1A):c.4092+3G>A rs781595676
NM_001127221.1(CACNA1A):c.4105T>C (p.Cys1369Arg) rs886041909
NM_001127221.1(CACNA1A):c.4138A>T (p.Ile1380Phe)
NM_001127221.1(CACNA1A):c.4176_4177insATCTTC (p.Val1393_Val1394insIlePhe)
NM_001127221.1(CACNA1A):c.4621G>A (p.Ala1541Thr)
NM_001127221.1(CACNA1A):c.4673G>A (p.Arg1558His) rs755172189
NM_001127221.1(CACNA1A):c.4723A>G (p.Met1575Val) rs1555743201
NM_001127221.1(CACNA1A):c.4839T>G (p.Cys1613Trp) rs781413708
NM_001127221.1(CACNA1A):c.486C>T (p.Gly162=) rs753180610
NM_001127221.1(CACNA1A):c.4879C>T (p.Arg1627Cys)
NM_001127221.1(CACNA1A):c.4880G>A (p.Arg1627His)
NM_001127221.1(CACNA1A):c.4882G>A (p.Asp1628Asn)
NM_001127221.1(CACNA1A):c.488C>T (p.Ser163Phe) rs1555789107
NM_001127221.1(CACNA1A):c.5063C>T (p.Ser1688Phe) rs1568447557
NM_001127221.1(CACNA1A):c.5098G>A (p.Ala1700Thr) rs371273055
NM_001127221.1(CACNA1A):c.5203G>A (p.Glu1735Lys) rs1064795744
NM_001127221.1(CACNA1A):c.5241G>C (p.Met1747Ile)
NM_001127221.1(CACNA1A):c.526G>C (p.Val176Leu) rs1057521920
NM_001127221.1(CACNA1A):c.5339G>A (p.Arg1780Gln)
NM_001127221.1(CACNA1A):c.536C>T (p.Thr179Met)
NM_001127221.1(CACNA1A):c.5403+3G>A rs1034627495
NM_001127221.1(CACNA1A):c.5422G>A (p.Ala1808Thr) rs1555736565
NM_001127221.1(CACNA1A):c.5442T>G (p.Phe1814Leu)
NM_001127221.1(CACNA1A):c.5455C>G (p.Arg1819Gly)
NM_001127221.1(CACNA1A):c.546G>A (p.Leu182=) rs368347143
NM_001127221.1(CACNA1A):c.5575A>G (p.Ile1859Val)
NM_001127221.1(CACNA1A):c.5590G>A (p.Gly1864Ser)
NM_001127221.1(CACNA1A):c.5629-6C>G
NM_001127221.1(CACNA1A):c.5743G>A (p.Asp1915Asn)
NM_001127221.1(CACNA1A):c.574C>T (p.Arg192Trp) rs1057518779
NM_001127221.1(CACNA1A):c.5943+5G>A
NM_001127221.1(CACNA1A):c.5948G>A (p.Arg1983Gln) rs745775887
NM_001127221.1(CACNA1A):c.5987C>T (p.Pro1996Leu) rs1568424203
NM_001127221.1(CACNA1A):c.5989A>G (p.Thr1997Ala) rs141963371
NM_001127221.1(CACNA1A):c.6008G>A (p.Gly2003Asp) rs1402384624
NM_001127221.1(CACNA1A):c.6016G>A (p.Ala2006Thr) rs374063403
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.6176G>C (p.Ser2059Thr)
NM_001127221.1(CACNA1A):c.6234C>A (p.Asp2078Glu) rs751515136
NM_001127221.1(CACNA1A):c.6237C>T (p.Ser2079=) rs758320697
NM_001127221.1(CACNA1A):c.6265G>A (p.Gly2089Ser) rs1259126760
NM_001127221.1(CACNA1A):c.6284C>T (p.Pro2095Leu)
NM_001127221.1(CACNA1A):c.6298G>A (p.Glu2100Lys) rs757385012
NM_001127221.1(CACNA1A):c.6319C>T (p.Arg2107Trp)
NM_001127221.1(CACNA1A):c.6364A>T (p.Met2122Leu) rs1317004203
NM_001127221.1(CACNA1A):c.6370C>T (p.Arg2124Cys)
NM_001127221.1(CACNA1A):c.6382G>A (p.Val2128Met) rs368183370
NM_001127221.1(CACNA1A):c.6401G>A (p.Arg2134Gln) rs779044548
NM_001127221.1(CACNA1A):c.6403C>T (p.Arg2135Cys) rs121908235
NM_001127221.1(CACNA1A):c.6439G>A (p.Glu2147Lys)
NM_001127221.1(CACNA1A):c.643G>A (p.Val215Ile) rs1555774867
NM_001127221.1(CACNA1A):c.6451C>T (p.Arg2151Trp)
NM_001127221.1(CACNA1A):c.6452G>A (p.Arg2151Gln) rs751044309
NM_001127221.1(CACNA1A):c.6459C>A (p.His2153Gln)
NM_001127221.1(CACNA1A):c.6464G>T (p.Arg2155Leu)
NM_001127221.1(CACNA1A):c.6467G>T (p.Arg2156Leu) rs572722130
NM_001127221.1(CACNA1A):c.6470G>A (p.Arg2157His) rs755749925
NM_001127221.1(CACNA1A):c.6475C>T (p.Arg2159Cys)
NM_001127221.1(CACNA1A):c.6487G>A (p.Ala2163Thr)
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.6517G>A (p.Asp2173Asn)
NM_001127221.1(CACNA1A):c.6530-7G>A rs1555730686
NM_001127221.1(CACNA1A):c.6530G>T (p.Gly2177Val) rs763045560
NM_001127221.1(CACNA1A):c.6616C>T (p.Arg2206Trp) rs780467849
NM_001127221.1(CACNA1A):c.6617G>A (p.Arg2206Gln) rs756685971
NM_001127221.1(CACNA1A):c.6630dup (p.His2211fs) rs1568419053
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.6662C>A (p.Pro2221His) rs16052
NM_001127221.1(CACNA1A):c.6683G>A (p.Arg2228His)
NM_001127221.1(CACNA1A):c.6701C>T (p.Pro2234Leu) rs1317740666
NM_001127221.1(CACNA1A):c.6709G>T (p.Gly2237Cys) rs752808137
NM_001127221.1(CACNA1A):c.6713_6722del (p.Arg2238fs) rs1042488847
NM_001127221.1(CACNA1A):c.6717_6722dup (p.2239_2240AR[3])
NM_001127221.1(CACNA1A):c.6718C>T (p.Arg2240Trp)
NM_001127221.1(CACNA1A):c.6724C>T (p.Arg2242Trp)
NM_001127221.1(CACNA1A):c.6732G>T (p.Gln2244His)
NM_001127221.1(CACNA1A):c.6754G>A (p.Glu2252Lys)
NM_001127221.1(CACNA1A):c.6783+3G>C
NM_001127221.1(CACNA1A):c.688G>A (p.Gly230Ser) rs1555774859
NM_001127221.1(CACNA1A):c.712_726dup (p.Leu238_Ile242dup) rs1568574602
NM_001127221.1(CACNA1A):c.745A>G (p.Met249Val) rs1005732031
NM_001127221.1(CACNA1A):c.832G>A (p.Ala278Thr)
NM_001127221.1(CACNA1A):c.889G>A (p.Gly297Arg) rs1168625480

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