ClinVar Miner

List of variants in gene CACNA1A reported as likely benign for not specified

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Gene type:
ClinVar version:
Total variants: 163
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030 0.17482
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) rs16016 0.11927
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) rs16006 0.08064
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=) rs16011 0.03687
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664 0.02366
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.02098
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01749
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=) rs16044 0.01420
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=) rs16012 0.01217
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894 0.01215
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) rs16019 0.01053
NM_001127222.2(CACNA1A):c.462C>T (p.Ala154=) rs1800039 0.00699
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026 0.00616
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00467
NM_001127222.2(CACNA1A):c.1345+7C>T rs192536793 0.00213
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053 0.00188
NM_001127222.2(CACNA1A):c.3457C>G (p.Gln1153Glu) rs201612257 0.00145
NM_001127222.2(CACNA1A):c.1914-4G>A rs191026552 0.00108
NM_001127222.2(CACNA1A):c.5840-14G>A rs184658006 0.00082
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062 0.00070
NM_001127222.2(CACNA1A):c.1083-4C>G rs201056216 0.00069
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) rs199793367 0.00057
NM_001127222.2(CACNA1A):c.978+9T>C rs111366222 0.00041
NM_001127222.2(CACNA1A):c.4926C>T (p.Thr1642=) rs16036 0.00031
NM_001127222.2(CACNA1A):c.5133+10G>A rs369033909 0.00029
NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=) rs372812865 0.00026
NM_001127222.2(CACNA1A):c.1781+7C>A rs202005119 0.00019
NM_001127222.2(CACNA1A):c.4866+13T>C rs368876802 0.00019
NM_001127222.2(CACNA1A):c.6339+10G>C rs376238265 0.00019
NM_001127222.2(CACNA1A):c.784+10C>T rs781363787 0.00018
NM_001127222.2(CACNA1A):c.7327G>A (p.Ala2443Thr) rs533884784 0.00017
NM_001127222.2(CACNA1A):c.-27A>G rs761508895 0.00016
NM_001127222.2(CACNA1A):c.6339+11C>T rs190260468 0.00016
NM_001127222.2(CACNA1A):c.5840-7C>T rs372261381 0.00014
NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser) rs17846908 0.00014
NM_001127222.2(CACNA1A):c.4388+8G>A rs376248243 0.00013
NM_001127222.2(CACNA1A):c.539+20C>T rs369959565 0.00013
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) rs201236364 0.00012
NM_001127222.2(CACNA1A):c.6526+11C>G rs767916527 0.00012
NM_001127222.2(CACNA1A):c.6573G>A (p.Pro2191=) rs554430594 0.00011
NM_001127222.2(CACNA1A):c.3564C>T (p.Asn1188=) rs200209920 0.00009
NM_001127222.2(CACNA1A):c.5134-20G>A rs756590078 0.00009
NM_001127222.2(CACNA1A):c.539+17A>G rs752280152 0.00009
NM_001127222.2(CACNA1A):c.1368C>T (p.Ser456=) rs377458008 0.00008
NM_001127222.2(CACNA1A):c.2172+9G>A rs368353124 0.00007
NM_001127222.2(CACNA1A):c.5394G>A (p.Ser1798=) rs201681631 0.00007
NM_001127222.2(CACNA1A):c.6527-16C>T rs752985059 0.00007
NM_001127222.2(CACNA1A):c.-34G>T rs897702047 0.00006
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr) rs201666606 0.00006
NM_001127222.2(CACNA1A):c.2853G>A (p.Ala951=) rs761522418 0.00006
NM_001127222.2(CACNA1A):c.2940C>G (p.Arg980=) rs1188340576 0.00006
NM_001127222.2(CACNA1A):c.4388+12G>A rs924927963 0.00006
NM_001127222.2(CACNA1A):c.5731+14A>G rs762304728 0.00006
NM_001127222.2(CACNA1A):c.5940+12G>A rs780841537 0.00006
NM_001127222.2(CACNA1A):c.561G>A (p.Thr187=) rs777316026 0.00005
NM_001127222.2(CACNA1A):c.219G>C (p.Thr73=) rs781239273 0.00004
NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser) rs751726770 0.00004
NM_001127222.2(CACNA1A):c.2712C>T (p.His904=) rs759320715 0.00004
NM_001127222.2(CACNA1A):c.3684G>A (p.Thr1228=) rs368048030 0.00004
NM_001127222.2(CACNA1A):c.539+10G>A rs375079448 0.00004
NM_001127222.2(CACNA1A):c.6339+12G>A rs371246823 0.00004
NM_001127222.2(CACNA1A):c.6339+9C>T rs369361580 0.00004
NM_001127222.2(CACNA1A):c.784+9A>G rs746215285 0.00004
NM_001127222.2(CACNA1A):c.-11C>T rs1057522015 0.00003
NM_001127222.2(CACNA1A):c.1990C>T (p.Leu664=) rs1246140836 0.00003
NM_001127222.2(CACNA1A):c.2487G>A (p.Glu829=) rs755434242 0.00003
NM_001127222.2(CACNA1A):c.4626G>A (p.Pro1542=) rs768317498 0.00003
NM_001127222.2(CACNA1A):c.4951-14C>T rs1019678447 0.00003
NM_001127222.2(CACNA1A):c.5421C>T (p.Ala1807=) rs372359926 0.00003
NM_001127222.2(CACNA1A):c.549G>A (p.Ala183=) rs16004 0.00003
NM_001127222.2(CACNA1A):c.5528+1273T>C rs371000214 0.00003
NM_001127222.2(CACNA1A):c.6192C>T (p.Ser2064=) rs974692135 0.00003
NM_001127222.2(CACNA1A):c.6340-19G>A rs916904971 0.00003
NM_001127222.2(CACNA1A):c.654G>A (p.Ser218=) rs201991581 0.00003
NM_001127222.2(CACNA1A):c.2889G>A (p.Arg963=) rs1390620211 0.00002
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=) rs758409135 0.00002
NM_001127222.2(CACNA1A):c.5166C>T (p.Asp1722=) rs200501726 0.00002
NM_001127222.2(CACNA1A):c.540-20T>C rs756413933 0.00002
NM_001127222.2(CACNA1A):c.5508C>T (p.Ala1836=) rs750338421 0.00002
NM_001127222.2(CACNA1A):c.5731+14del rs762645821 0.00002
NM_001127222.2(CACNA1A):c.5731+20G>A rs774752183 0.00002
NM_001127222.2(CACNA1A):c.5732-20T>C rs1425639727 0.00002
NM_001127222.2(CACNA1A):c.5839+15C>T rs756095565 0.00002
NM_001127222.2(CACNA1A):c.6234C>T (p.Ser2078=) rs758320697 0.00002
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130 0.00002
NM_001127222.2(CACNA1A):c.117C>T (p.Gly39=) rs374304094 0.00001
NM_001127222.2(CACNA1A):c.1230C>T (p.Asp410=) rs751952553 0.00001
NM_001127222.2(CACNA1A):c.1257T>C (p.Ala419=) rs1555766602 0.00001
NM_001127222.2(CACNA1A):c.1669-17C>T rs755846938 0.00001
NM_001127222.2(CACNA1A):c.1989C>T (p.Ile663=) rs764413479 0.00001
NM_001127222.2(CACNA1A):c.2022C>T (p.Tyr674=) rs940460024 0.00001
NM_001127222.2(CACNA1A):c.2025C>T (p.Asp675=) rs1170735669 0.00001
NM_001127222.2(CACNA1A):c.2397G>A (p.Pro799=) rs996453280 0.00001
NM_001127222.2(CACNA1A):c.2655A>G (p.Gly885=) rs1057524746 0.00001
NM_001127222.2(CACNA1A):c.2799G>A (p.Val933=) rs761397410 0.00001
NM_001127222.2(CACNA1A):c.3261C>T (p.His1087=) rs776799566 0.00001
NM_001127222.2(CACNA1A):c.3692+20A>G rs934863410 0.00001
NM_001127222.2(CACNA1A):c.3750C>T (p.Leu1250=) rs1238454656 0.00001
NM_001127222.2(CACNA1A):c.3823-15T>A rs1389346234 0.00001
NM_001127222.2(CACNA1A):c.3882+13T>C rs779233415 0.00001
NM_001127222.2(CACNA1A):c.399+3G>A rs1275496281 0.00001
NM_001127222.2(CACNA1A):c.4755+12A>C rs1057522757 0.00001
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=) rs886043622 0.00001
NM_001127222.2(CACNA1A):c.5400+7C>T rs1046598864 0.00001
NM_001127222.2(CACNA1A):c.5528+16G>A rs775890060 0.00001
NM_001127222.2(CACNA1A):c.5731+19C>T rs1259224644 0.00001
NM_001127222.2(CACNA1A):c.5840-16G>A rs771333825 0.00001
NM_001127222.2(CACNA1A):c.6015C>T (p.Ala2005=) rs369675855 0.00001
NM_001127222.2(CACNA1A):c.6069C>T (p.Gly2023=) rs773076084 0.00001
NM_001127222.2(CACNA1A):c.6705C>T (p.His2235=) rs1376732755 0.00001
NM_001127222.2(CACNA1A):c.-42C>A rs1057518510
NM_001127222.2(CACNA1A):c.1198+16C>A rs375761179
NM_001127222.2(CACNA1A):c.1290A>G (p.Thr430=) rs1057522625
NM_001127222.2(CACNA1A):c.1668+7G>A rs567507041
NM_001127222.2(CACNA1A):c.1722A>G (p.Thr574=) rs1555759053
NM_001127222.2(CACNA1A):c.1987-16C>A rs1057523685
NM_001127222.2(CACNA1A):c.2172+16G>A rs895983254
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr) rs535900273
NM_001127222.2(CACNA1A):c.2337T>C (p.Ser779=) rs1555756457
NM_001127222.2(CACNA1A):c.2356T>C (p.Leu786=) rs1555756445
NM_001127222.2(CACNA1A):c.2400C>T (p.Asp800=) rs376074188
NM_001127222.2(CACNA1A):c.2619C>T (p.Gly873=) rs761874927
NM_001127222.2(CACNA1A):c.2737_2739delinsTCT (p.Pro913Ser) rs886043758
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.2757G>A (p.Glu919=) rs747307828
NM_001127222.2(CACNA1A):c.2787C>T (p.His929=) rs1555756078
NM_001127222.2(CACNA1A):c.2968GAGGGC[2] (p.990EG[2]) rs764399373
NM_001127222.2(CACNA1A):c.3162G>A (p.Leu1054=) rs1057522586
NM_001127222.2(CACNA1A):c.3288G>A (p.Lys1096=) rs1555752995
NM_001127222.2(CACNA1A):c.3510C>A (p.Ile1170=) rs1431054685
NM_001127222.2(CACNA1A):c.3823-3C>T rs1057521929
NM_001127222.2(CACNA1A):c.4347G>C (p.Leu1449=) rs1419042501
NM_001127222.2(CACNA1A):c.4388+19A>G rs1057524029
NM_001127222.2(CACNA1A):c.4479C>T (p.Tyr1493=) rs1057522060
NM_001127222.2(CACNA1A):c.4710G>T (p.Thr1570=) rs761547761
NM_001127222.2(CACNA1A):c.4867-8C>T rs1057522362
NM_001127222.2(CACNA1A):c.5031C>A (p.Ile1677=) rs1555738339
NM_001127222.2(CACNA1A):c.5112C>T (p.Ile1704=) rs1057521708
NM_001127222.2(CACNA1A):c.5205C>T (p.His1735=) rs1057523955
NM_001127222.2(CACNA1A):c.539+14G>A rs1057523199
NM_001127222.2(CACNA1A):c.539+8G>A rs372925573
NM_001127222.2(CACNA1A):c.5401-10G>T rs370129945
NM_001127222.2(CACNA1A):c.5415T>C (p.Phe1805=) rs1057523399
NM_001127222.2(CACNA1A):c.5670C>T (p.Val1890=) rs1044642598
NM_001127222.2(CACNA1A):c.5820G>A (p.Leu1940=)
NM_001127222.2(CACNA1A):c.5840-17C>T rs556502230
NM_001127222.2(CACNA1A):c.5940+15G>A rs370364972
NM_001127222.2(CACNA1A):c.5940+18C>G rs1057522421
NM_001127222.2(CACNA1A):c.632-18C>A rs1057523722
NM_001127222.2(CACNA1A):c.632-7C>A rs1555774874
NM_001127222.2(CACNA1A):c.654G>C (p.Ser218=) rs201991581
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[11] (p.His2218_His2219dup) rs759331923
NM_001127222.2(CACNA1A):c.6647_6658del (p.His2216_His2219del) rs770368215
NM_001127222.2(CACNA1A):c.6653_6658del (p.His2218_His2219del) rs774721955
NM_001127222.2(CACNA1A):c.6657delinsCCAC (p.His2219dup) rs1057518615
NM_001127222.2(CACNA1A):c.7002C>T (p.Ala2334=) rs1057521445

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