ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 361
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.1782-20C>T rs73513425 0.03727
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=) rs16011 0.03687
NM_001127222.2(CACNA1A):c.400-28C>T rs55839906 0.02487
NM_001127222.2(CACNA1A):c.5401-35C>T rs16041 0.02379
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664 0.02366
NM_001127222.2(CACNA1A):c.3090-324C>T rs139596014 0.02170
NM_001127222.2(CACNA1A):c.5732-75A>G rs80216489 0.01927
NM_001127222.2(CACNA1A):c.4388+221_4388+235del rs775769249 0.01848
NM_001127222.2(CACNA1A):c.4950+166C>A rs78265973 0.01537
NM_001127222.2(CACNA1A):c.539+152C>A rs74382623 0.01413
NM_001127222.2(CACNA1A):c.4089+137T>A rs62108601 0.01303
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=) rs16012 0.01217
NM_001127222.2(CACNA1A):c.5250-101C>T rs118091436 0.01216
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894 0.01215
NM_001127222.2(CACNA1A):c.5625+65T>C rs372041159 0.01203
NM_001127222.2(CACNA1A):c.5529-885A>G rs117340172 0.01166
NM_001127222.2(CACNA1A):c.1198+228C>T rs115114908 0.01109
NM_001127222.2(CACNA1A):c.5250-55G>A rs144170644 0.01096
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) rs16019 0.01053
NM_001127222.2(CACNA1A):c.1913+112G>A rs149233161 0.00909
NM_001127222.2(CACNA1A):c.6189+41G>A rs7246682 0.00901
NM_001127222.2(CACNA1A):c.5626-180C>T rs115954706 0.00891
NM_001127222.2(CACNA1A):c.5626-56G>A rs149917710 0.00843
NM_001127222.2(CACNA1A):c.4388+221_4388+232del rs1277915263 0.00836
NM_001127222.2(CACNA1A):c.4866+310G>A rs143600357 0.00834
NM_001127222.2(CACNA1A):c.4866+273C>T rs138067584 0.00832
NM_001127222.2(CACNA1A):c.6527-134C>T rs181255369 0.00826
NM_001127222.2(CACNA1A):c.*302A>G rs111240372 0.00757
NM_001127222.2(CACNA1A):c.7431C>T (p.Tyr2477=) rs16059 0.00712
NM_001127222.2(CACNA1A):c.293+253C>T rs114897897 0.00672
NM_001127222.2(CACNA1A):c.293+182T>C rs144454175 0.00671
NM_001127222.2(CACNA1A):c.3822+253T>A rs73511449 0.00661
NM_001127222.2(CACNA1A):c.1987-72T>A rs73511489 0.00656
NM_001127222.2(CACNA1A):c.6303+289G>A rs145366844 0.00624
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020 0.00616
NM_001127222.2(CACNA1A):c.5732-143G>C rs111900823 0.00609
NM_001127222.2(CACNA1A):c.2173-271A>G rs77219463 0.00605
NM_001127222.2(CACNA1A):c.5732-197G>A rs138057423 0.00579
NM_001127222.2(CACNA1A):c.1555+24C>T rs10422728 0.00534
NM_001127222.2(CACNA1A):c.2173-62C>G rs116732979 0.00520
NM_001127222.2(CACNA1A):c.785-93G>A rs114966988 0.00499
NM_001127222.2(CACNA1A):c.5731+159G>T rs377481166 0.00490
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00467
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_001127222.2(CACNA1A):c.631+45C>T rs191787416 0.00362
NM_001127222.2(CACNA1A):c.4755+181T>G rs116513466 0.00330
NM_001127222.2(CACNA1A):c.1698C>T (p.Ile566=) rs190603219 0.00314
NM_001127222.2(CACNA1A):c.1199-298A>G rs141686642 0.00300
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) rs374664760 0.00262
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.399+189G>A rs141059769 0.00156
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786 0.00153
NM_001127222.2(CACNA1A):c.4590+33A>G rs368199574 0.00148
NM_001127222.2(CACNA1A):c.2280-124T>C rs185054005 0.00141
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894 0.00131
NM_001127222.2(CACNA1A):c.7261C>G (p.Pro2421Ala) rs544924244 0.00130
NM_001127222.2(CACNA1A):c.7262C>T (p.Pro2421Leu) rs573961089 0.00130
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00114
NM_001127222.2(CACNA1A):c.631+37del rs202061083 0.00111
NM_001127222.2(CACNA1A):c.1914-4G>A rs191026552 0.00108
NM_001127222.2(CACNA1A):c.5400+15A>C rs373246283 0.00078
NM_001127222.2(CACNA1A):c.6561C>T (p.Ser2187=) rs371116746 0.00064
NM_001127222.2(CACNA1A):c.4644G>A (p.Pro1548=) rs199854716 0.00060
NM_001127222.2(CACNA1A):c.6527-19T>C rs375949210 0.00058
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) rs374749004 0.00057
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) rs199793367 0.00057
NM_001127222.2(CACNA1A):c.3693-20C>T rs200082880 0.00048
NM_001127222.2(CACNA1A):c.2844C>G (p.Arg948=) rs559862641 0.00036
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) rs16010 0.00030
NM_001127222.2(CACNA1A):c.3990-36C>G rs371395911 0.00030
NM_001127222.2(CACNA1A):c.3117G>T (p.Val1039=) rs745981005 0.00029
NM_001127222.2(CACNA1A):c.4806C>T (p.Ile1602=) rs372240227 0.00029
NM_001127222.2(CACNA1A):c.7274G>A (p.Gly2425Asp) rs555362569 0.00029
NM_001127222.2(CACNA1A):c.1905C>T (p.Phe635=) rs115452236 0.00026
NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=) rs372812865 0.00026
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val) rs199512932 0.00024
NM_001127222.2(CACNA1A):c.6050+23A>C rs575642712 0.00024
NM_001127222.2(CACNA1A):c.7291G>A (p.Ala2431Thr) rs1052515747 0.00024
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=) rs572036869 0.00023
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014 0.00022
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077 0.00022
NM_001127222.2(CACNA1A):c.3822C>T (p.Asn1274=) rs201230929 0.00021
NM_001127222.2(CACNA1A):c.7189G>A (p.Val2397Met) rs768129470 0.00020
NM_001127222.2(CACNA1A):c.1781+7C>A rs202005119 0.00019
NM_001127222.2(CACNA1A):c.1995G>A (p.Thr665=) rs376641545 0.00019
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=) rs749357610 0.00019
NM_001127222.2(CACNA1A):c.1545C>T (p.Ser515=) rs372275167 0.00017
NM_001127222.2(CACNA1A):c.6474C>T (p.Arg2158=) rs368016666 0.00017
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His) rs727503832 0.00017
NM_001127222.2(CACNA1A):c.7050C>T (p.Ala2350=) rs932173199 0.00017
NM_001127222.2(CACNA1A):c.7327G>A (p.Ala2443Thr) rs533884784 0.00017
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) rs368033271 0.00016
NM_001127222.2(CACNA1A):c.2907G>A (p.Pro969=) rs772557121 0.00016
NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp) rs757026025 0.00016
NM_001127222.2(CACNA1A):c.3384G>A (p.Pro1128=) rs370541345 0.00016
NM_001127222.2(CACNA1A):c.4410C>T (p.Asp1470=) rs374555263 0.00016
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn) rs371595464 0.00016
NM_001127222.2(CACNA1A):c.4950+3624C>T rs376074211 0.00015
NM_001127222.2(CACNA1A):c.5987C>T (p.Thr1996Met) rs778274864 0.00015
NM_001127222.2(CACNA1A):c.1500G>A (p.Thr500=) rs373192672 0.00014
NM_001127222.2(CACNA1A):c.5259C>T (p.Thr1753=) rs376684786 0.00014
NM_001127222.2(CACNA1A):c.5840-7C>T rs372261381 0.00014
NM_001127222.2(CACNA1A):c.6084G>A (p.Pro2028=) rs374954726 0.00014
NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=) rs745609731 0.00014
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg) rs190551509 0.00013
NM_001127222.2(CACNA1A):c.539+9C>T rs369146237 0.00013
NM_001127222.2(CACNA1A):c.1256-47C>G rs779502995 0.00012
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.6584G>A (p.Arg2195Gln) rs373192655 0.00012
NC_000019.10:g.13599806G>A rs970127068 0.00011
NM_001127222.2(CACNA1A):c.1782-6C>T rs201350764 0.00011
NM_001127222.2(CACNA1A):c.5400+18G>A rs16040 0.00011
NM_001127222.2(CACNA1A):c.5C>T (p.Ala2Val) rs927310190 0.00011
NM_001127222.2(CACNA1A):c.6468C>T (p.Arg2156=) rs745336852 0.00011
NM_001127222.2(CACNA1A):c.6573G>A (p.Pro2191=) rs554430594 0.00011
NM_001127222.2(CACNA1A):c.1212C>G (p.Leu404=) rs540579196 0.00010
NM_001127222.2(CACNA1A):c.5134-4A>G rs200165596 0.00010
NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys) rs202002033 0.00010
NM_001127222.2(CACNA1A):c.2046C>T (p.Gly682=) rs535077726 0.00009
NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile) rs369742607 0.00009
NM_001127222.2(CACNA1A):c.3564C>T (p.Asn1188=) rs200209920 0.00009
NM_001127222.2(CACNA1A):c.3774C>T (p.Ile1258=) rs759641758 0.00009
NM_001127222.2(CACNA1A):c.6257G>T (p.Gly2086Val) rs765051582 0.00009
NM_001127222.2(CACNA1A):c.6782G>A (p.Gly2261Asp) rs751364653 0.00009
NM_001127222.2(CACNA1A):c.1368C>T (p.Ser456=) rs377458008 0.00008
NM_001127222.2(CACNA1A):c.1555+46C>T rs765977644 0.00008
NM_001127222.2(CACNA1A):c.4591-5C>T rs199631921 0.00008
NM_001127222.2(CACNA1A):c.5401-10G>A rs370129945 0.00008
NM_001127222.2(CACNA1A):c.2172+9G>A rs368353124 0.00007
NM_001127222.2(CACNA1A):c.4338G>A (p.Leu1446=) rs371952826 0.00007
NM_001127222.2(CACNA1A):c.5394G>A (p.Ser1798=) rs201681631 0.00007
NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=) rs371972266 0.00007
NM_001127222.2(CACNA1A):c.1593C>T (p.Ser531=) rs372090886 0.00006
NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=) rs780515850 0.00006
NM_001127222.2(CACNA1A):c.2853G>A (p.Ala951=) rs761522418 0.00006
NM_001127222.2(CACNA1A):c.297C>T (p.Pro99=) rs370211834 0.00006
NM_001127222.2(CACNA1A):c.3489C>T (p.Pro1163=) rs771567638 0.00006
NM_001127222.2(CACNA1A):c.3649A>G (p.Met1217Val) rs372017604 0.00006
NM_001127222.2(CACNA1A):c.546G>A (p.Leu182=) rs368347143 0.00006
NM_001127222.2(CACNA1A):c.549G>T (p.Ala183=) rs16004 0.00006
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser) rs751947412 0.00006
NM_001127222.2(CACNA1A):c.6067G>A (p.Gly2023Ser) rs574805525 0.00006
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly) rs771768635 0.00006
NM_001127222.2(CACNA1A):c.6190-3C>A rs368480650 0.00006
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln) rs769040794 0.00006
NM_001127222.2(CACNA1A):c.7233G>C (p.Arg2411=) rs1015330748 0.00006
NM_001127222.2(CACNA1A):c.903C>T (p.Phe301=) rs17846910 0.00006
NM_001127222.2(CACNA1A):c.105C>T (p.Gly35=) rs745876675 0.00005
NM_001127222.2(CACNA1A):c.1199-9C>T rs529977616 0.00005
NM_001127222.2(CACNA1A):c.1305C>T (p.Pro435=) rs376451601 0.00005
NM_001127222.2(CACNA1A):c.2626G>A (p.Gly876Ser) rs763054302 0.00005
NM_001127222.2(CACNA1A):c.3123C>A (p.Gly1041=) rs377466062 0.00005
NM_001127222.2(CACNA1A):c.4591-9C>G rs16032 0.00005
NM_001127222.2(CACNA1A):c.4896C>T (p.Phe1632=) rs374613316 0.00005
NM_001127222.2(CACNA1A):c.5268T>C (p.Ala1756=) rs373678557 0.00005
NM_001127222.2(CACNA1A):c.561G>A (p.Thr187=) rs777316026 0.00005
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=) rs202216404 0.00005
NM_001127222.2(CACNA1A):c.6663G>A (p.Pro2221=) rs1447103387 0.00005
NM_001127222.2(CACNA1A):c.6978G>A (p.Ala2326=) rs772427988 0.00005
NM_001127222.2(CACNA1A):c.807G>A (p.Pro269=) rs772730357 0.00005
NM_001127222.2(CACNA1A):c.1233G>A (p.Gly411=) rs764453012 0.00004
NM_001127222.2(CACNA1A):c.2105-8A>G rs763822129 0.00004
NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser) rs751726770 0.00004
NM_001127222.2(CACNA1A):c.2718G>A (p.Arg906=) rs909344317 0.00004
NM_001127222.2(CACNA1A):c.27G>T (p.Pro9=) rs547576283 0.00004
NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser) rs775079932 0.00004
NM_001127222.2(CACNA1A):c.3226G>A (p.Ala1076Thr) rs554091859 0.00004
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile) rs373224251 0.00004
NM_001127222.2(CACNA1A):c.3621C>T (p.Asp1207=) rs368211900 0.00004
NM_001127222.2(CACNA1A):c.3843C>T (p.Tyr1281=) rs774224202 0.00004
NM_001127222.2(CACNA1A):c.4292G>A (p.Arg1431Gln) rs369440853 0.00004
NM_001127222.2(CACNA1A):c.5401-3C>T rs375947967 0.00004
NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=) rs188863534 0.00004
NM_001127222.2(CACNA1A):c.631+14C>T rs1377159542 0.00004
NM_001127222.2(CACNA1A):c.687C>T (p.Ile229=) rs544057763 0.00004
NM_001127222.2(CACNA1A):c.1191A>G (p.Ser397=) rs781149861 0.00003
NM_001127222.2(CACNA1A):c.2028G>A (p.Gly676=) rs369129616 0.00003
NM_001127222.2(CACNA1A):c.2895G>C (p.Gly965=) rs1057522107 0.00003
NM_001127222.2(CACNA1A):c.3210C>T (p.Asn1070=) rs369927027 0.00003
NM_001127222.2(CACNA1A):c.3372G>A (p.Thr1124=) rs770311284 0.00003
NM_001127222.2(CACNA1A):c.3483G>A (p.Arg1161=) rs772768681 0.00003
NM_001127222.2(CACNA1A):c.4362C>T (p.Thr1454=) rs190264873 0.00003
NM_001127222.2(CACNA1A):c.5421C>T (p.Ala1807=) rs372359926 0.00003
NM_001127222.2(CACNA1A):c.5493C>T (p.Tyr1831=) rs777510892 0.00003
NM_001127222.2(CACNA1A):c.549G>A (p.Ala183=) rs16004 0.00003
NM_001127222.2(CACNA1A):c.5580G>A (p.Pro1860=) rs144137960 0.00003
NM_001127222.2(CACNA1A):c.5853C>T (p.Thr1951=) rs534218994 0.00003
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694 0.00003
NM_001127222.2(CACNA1A):c.642C>T (p.Val214=) rs1336839525 0.00003
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=) rs749587119 0.00003
NM_001127222.2(CACNA1A):c.1083-11T>C rs777235021 0.00002
NM_001127222.2(CACNA1A):c.1356C>T (p.Phe452=) rs41276888 0.00002
NM_001127222.2(CACNA1A):c.3000G>A (p.Glu1000=) rs965510264 0.00002
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=) rs373678395 0.00002
NM_001127222.2(CACNA1A):c.3264C>T (p.Ala1088=) rs916089734 0.00002
NM_001127222.2(CACNA1A):c.3420C>T (p.Pro1140=) rs542849275 0.00002
NM_001127222.2(CACNA1A):c.4251-4G>A rs201785699 0.00002
NM_001127222.2(CACNA1A):c.4440C>T (p.Pro1480=) rs756711282 0.00002
NM_001127222.2(CACNA1A):c.4591-4G>A rs370348070 0.00002
NM_001127222.2(CACNA1A):c.4608C>T (p.Phe1536=) rs760679421 0.00002
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=) rs758409135 0.00002
NM_001127222.2(CACNA1A):c.5158G>A (p.Val1720Met) rs537982877 0.00002
NM_001127222.2(CACNA1A):c.5166C>T (p.Asp1722=) rs200501726 0.00002
NM_001127222.2(CACNA1A):c.5844G>A (p.Thr1948=) rs368203745 0.00002
NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala) rs141963371 0.00002
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr) rs374063403 0.00002
NM_001127222.2(CACNA1A):c.6331A>G (p.Asn2111Asp) rs1162464868 0.00002
NM_001127222.2(CACNA1A):c.6340-7C>A rs765609971 0.00002
NM_001127222.2(CACNA1A):c.6408C>T (p.Asp2136=) rs779701046 0.00002
NM_001127222.2(CACNA1A):c.6417G>A (p.Ser2139=) rs1174598861 0.00002
NM_001127222.2(CACNA1A):c.6467G>A (p.Arg2156His) rs755749925 0.00002
NM_001127222.2(CACNA1A):c.6662C>T (p.Pro2221Leu) rs778551911 0.00002
NM_001127222.2(CACNA1A):c.6781-6G>A rs757167417 0.00002
NM_001127222.2(CACNA1A):c.6995G>A (p.Arg2332Gln) rs748579395 0.00002
NM_001127222.2(CACNA1A):c.7052G>A (p.Gly2351Glu) rs1442777428 0.00002
NM_001127222.2(CACNA1A):c.1427G>A (p.Arg476His) rs755107633 0.00001
NM_001127222.2(CACNA1A):c.1669-17C>T rs755846938 0.00001
NM_001127222.2(CACNA1A):c.1782G>A (p.Lys594=) rs756972061 0.00001
NM_001127222.2(CACNA1A):c.1809C>T (p.Val603=) rs560241650 0.00001
NM_001127222.2(CACNA1A):c.1875C>T (p.Val625=) rs774629539 0.00001
NM_001127222.2(CACNA1A):c.1899A>G (p.Gln633=) rs769887736 0.00001
NM_001127222.2(CACNA1A):c.2173-11G>A rs367573994 0.00001
NM_001127222.2(CACNA1A):c.2520G>A (p.Ala840=) rs1367532933 0.00001
NM_001127222.2(CACNA1A):c.2759C>G (p.Ala920Gly) rs538079885 0.00001
NM_001127222.2(CACNA1A):c.2811G>T (p.Gly937=) rs1322679497 0.00001
NM_001127222.2(CACNA1A):c.2919G>A (p.Ala973=) rs1229290225 0.00001
NM_001127222.2(CACNA1A):c.2979C>T (p.Gly993=) rs1347561457 0.00001
NM_001127222.2(CACNA1A):c.318C>T (p.Ala106=) rs554701306 0.00001
NM_001127222.2(CACNA1A):c.3282A>G (p.Pro1094=) rs2057410670 0.00001
NM_001127222.2(CACNA1A):c.3308C>T (p.Pro1103Leu) rs554455455 0.00001
NM_001127222.2(CACNA1A):c.3450C>T (p.Ser1150=) rs751700486 0.00001
NM_001127222.2(CACNA1A):c.3639C>T (p.Gly1213=) rs976780203 0.00001
NM_001127222.2(CACNA1A):c.3783C>T (p.Ala1261=) rs1057523661 0.00001
NM_001127222.2(CACNA1A):c.4293A>G (p.Arg1431=) rs913405402 0.00001
NM_001127222.2(CACNA1A):c.5094C>T (p.Ile1698=) rs201844207 0.00001
NM_001127222.2(CACNA1A):c.5134-3C>T rs576141199 0.00001
NM_001127222.2(CACNA1A):c.5154C>T (p.Ile1718=) rs751799133 0.00001
NM_001127222.2(CACNA1A):c.5256C>T (p.Ala1752=) rs753902560 0.00001
NM_001127222.2(CACNA1A):c.5298C>T (p.Ser1766=) rs767315464 0.00001
NM_001127222.2(CACNA1A):c.5400+8T>C rs772508313 0.00001
NM_001127222.2(CACNA1A):c.5528+6A>G rs762224302 0.00001
NM_001127222.2(CACNA1A):c.5732-8C>T rs1057521521 0.00001
NM_001127222.2(CACNA1A):c.5811G>A (p.Thr1937=) rs747273411 0.00001
NM_001127222.2(CACNA1A):c.6060C>T (p.His2020=) rs1282402038 0.00001
NM_001127222.2(CACNA1A):c.6190-4G>A rs769551839 0.00001
NM_001127222.2(CACNA1A):c.6211G>A (p.Gly2071Ser) rs370514102 0.00001
NM_001127222.2(CACNA1A):c.6228C>T (p.Ser2076=) rs781315895 0.00001
NM_001127222.2(CACNA1A):c.632-8C>T rs762951690 0.00001
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=) rs760994682 0.00001
NM_001127222.2(CACNA1A):c.6705C>T (p.His2235=) rs1376732755 0.00001
NM_001127222.2(CACNA1A):c.684G>A (p.Gln228=) rs1356192843 0.00001
NM_001127222.2(CACNA1A):c.7488A>G (p.Glu2496=) rs745440661 0.00001
NM_001127222.2(CACNA1A):c.864G>A (p.Gln288=) rs770448965 0.00001
NC_000019.10:g.13198071A>T
NC_000019.10:g.13506621del rs569789898
NC_000019.10:g.13506697C>A rs572550834
NC_000019.10:g.13599842C>A
NC_000019.10:g.13599844G>A
NC_000019.10:g.13599907C>T
NM_001127222.2(CACNA1A):c.*219A>C rs116023034
NM_001127222.2(CACNA1A):c.1083-105_1083-104insAA rs1293242951
NM_001127222.2(CACNA1A):c.1191A>C (p.Ser397=)
NM_001127222.2(CACNA1A):c.1215C>T (p.Ala405=) rs1346992540
NM_001127222.2(CACNA1A):c.126C>G (p.Pro42=)
NM_001127222.2(CACNA1A):c.1346-3C>T rs867600983
NM_001127222.2(CACNA1A):c.1923C>T (p.Phe641=)
NM_001127222.2(CACNA1A):c.1965A>T (p.Ala655=) rs1600291631
NM_001127222.2(CACNA1A):c.2172+14G>A rs1195908031
NM_001127222.2(CACNA1A):c.2172+4G>A rs1600283002
NM_001127222.2(CACNA1A):c.2427G>T (p.Arg809=) rs1600273948
NM_001127222.2(CACNA1A):c.2451G>A (p.Thr817=) rs201998077
NM_001127222.2(CACNA1A):c.2580A>G (p.Lys860=)
NM_001127222.2(CACNA1A):c.2715C>T (p.Ala905=)
NM_001127222.2(CACNA1A):c.2739C>G (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.2751G>A (p.Glu917=)
NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp) rs747413278
NM_001127222.2(CACNA1A):c.2968GAGGGC[2] (p.990EG[2]) rs764399373
NM_001127222.2(CACNA1A):c.3051G>C (p.Ala1017=)
NM_001127222.2(CACNA1A):c.3084G>A (p.Arg1028=)
NM_001127222.2(CACNA1A):c.3089+47_3089+49del rs575123090
NM_001127222.2(CACNA1A):c.3189G>A (p.Glu1063=) rs2057413345
NM_001127222.2(CACNA1A):c.3265G>A (p.Gly1089Ser) rs201311000
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys) rs201311000
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg) rs200333359
NM_001127222.2(CACNA1A):c.3591A>G (p.Lys1197=)
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del) rs772989979
NM_001127222.2(CACNA1A):c.3609G>A (p.Glu1203=) rs529584159
NM_001127222.2(CACNA1A):c.3692+31G>T rs111602970
NM_001127222.2(CACNA1A):c.3807C>T (p.Asn1269=) rs557721660
NM_001127222.2(CACNA1A):c.384G>A (p.Pro128=)
NM_001127222.2(CACNA1A):c.3882+45del rs34471308
NM_001127222.2(CACNA1A):c.4020G>T (p.Thr1340=) rs370735316
NM_001127222.2(CACNA1A):c.4089+5_4089+6del rs368911651
NM_001127222.2(CACNA1A):c.4269C>T (p.Tyr1423=)
NM_001127222.2(CACNA1A):c.4290G>T (p.Ala1430=) rs555959123
NM_001127222.2(CACNA1A):c.4443G>A (p.Gly1481=) rs750865024
NM_001127222.2(CACNA1A):c.4473C>G (p.Val1491=)
NM_001127222.2(CACNA1A):c.4872T>C (p.Tyr1624=)
NM_001127222.2(CACNA1A):c.4878C>T (p.Arg1626=)
NM_001127222.2(CACNA1A):c.5232C>A (p.Ala1744=) rs1600138370
NM_001127222.2(CACNA1A):c.5295C>T (p.Leu1765=)
NM_001127222.2(CACNA1A):c.5528+1206C>G rs78385489
NM_001127222.2(CACNA1A):c.5529-1078CT[8] rs34941295
NM_001127222.2(CACNA1A):c.5529-1098AT[8] rs74181814
NM_001127222.2(CACNA1A):c.5625+69_5625+71del rs527479319
NM_001127222.2(CACNA1A):c.5649C>T (p.Pro1883=)
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=) rs757291476
NM_001127222.2(CACNA1A):c.5731+162dup rs71168691
NM_001127222.2(CACNA1A):c.5731+342del rs71168690
NM_001127222.2(CACNA1A):c.5732-39del rs559922012
NM_001127222.2(CACNA1A):c.5941-109GT[13] rs61178346
NM_001127222.2(CACNA1A):c.5941-109GT[16] rs61178346
NM_001127222.2(CACNA1A):c.5941-86_5941-85del rs201343124
NM_001127222.2(CACNA1A):c.5955C>A (p.Leu1985=) rs2054861464
NM_001127222.2(CACNA1A):c.6031C>T (p.Leu2011=)
NM_001127222.2(CACNA1A):c.60C>T (p.Ala20=)
NM_001127222.2(CACNA1A):c.6189+28G>C rs375925559
NM_001127222.2(CACNA1A):c.6303+50G>A rs376767532
NM_001127222.2(CACNA1A):c.6327G>A (p.Gly2109=)
NM_001127222.2(CACNA1A):c.6432G>A (p.Pro2144=)
NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr) rs17846928
NM_001127222.2(CACNA1A):c.6528C>T (p.Gly2176=) rs2054695798
NM_001127222.2(CACNA1A):c.654G>C (p.Ser218=) rs201991581
NM_001127222.2(CACNA1A):c.6587_6598del (p.Asp2196_Arg2199del) rs763941704
NM_001127222.2(CACNA1A):c.6630C>G (p.His2210Gln) rs1006425986
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[6] (p.His2217_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[7] (p.His2218_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[8] (p.His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6647_6658del (p.His2216_His2219del) rs770368215
NM_001127222.2(CACNA1A):c.6654C>T (p.His2218=) rs2144501874
NM_001127222.2(CACNA1A):c.6656_6658del (p.His2219del) rs749638821
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.6659C>A (p.Pro2220His) rs16052
NM_001127222.2(CACNA1A):c.6660C>A (p.Pro2220=) rs771726163
NM_001127222.2(CACNA1A):c.6663G>C (p.Pro2221=)
NM_001127222.2(CACNA1A):c.6680G>A (p.Arg2227His) rs1064793075
NM_001127222.2(CACNA1A):c.672C>T (p.Ile224=) rs771429351
NM_001127222.2(CACNA1A):c.6781-148TCC[3] rs376408077
NM_001127222.2(CACNA1A):c.6781-148TCC[5] rs376408077
NM_001127222.2(CACNA1A):c.6885A>C (p.Pro2295=)
NM_001127222.2(CACNA1A):c.6894C>T (p.Ser2298=)
NM_001127222.2(CACNA1A):c.6981G>A (p.Val2327=)
NM_001127222.2(CACNA1A):c.7194C>G (p.Ser2398=) rs774776009
NM_001127222.2(CACNA1A):c.7203C>T (p.Pro2401=) rs1218506473
NM_001127222.2(CACNA1A):c.7242C>T (p.Asp2414=)
NM_001127222.2(CACNA1A):c.7254C>T (p.Ala2418=)
NM_001127222.2(CACNA1A):c.7263G>A (p.Pro2421=)
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) rs775428832
NM_001127222.2(CACNA1A):c.7275C>T (p.Gly2425=)
NM_001127222.2(CACNA1A):c.72C>T (p.Val24=) rs773531250
NM_001127222.2(CACNA1A):c.7344C>G (p.Thr2448=) rs770109102
NM_001127222.2(CACNA1A):c.7426T>C (p.Tyr2476His) rs779631503
NM_001127222.2(CACNA1A):c.7440C>G (p.His2480Gln) rs539546830
NM_001127222.2(CACNA1A):c.7458C>A (p.Arg2486=)
NM_001127222.2(CACNA1A):c.7491C>T (p.Pro2497=) rs1368524598
NM_001127222.2(CACNA1A):c.849T>C (p.Asn283=)

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