ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 361
Download table as spreadsheet
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.3167G>A (p.Arg1056His) rs200850308 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.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=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.