ClinVar Miner

List of variants in gene CACNA1S reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.4668+119C>G rs12407188 0.02606
NM_000069.3(CACNA1S):c.2551-286C>G rs2297899 0.02276
NM_000069.3(CACNA1S):c.399-145T>A rs117190487 0.01913
NM_000069.3(CACNA1S):c.4798-309C>T rs55837027 0.01881
NM_000069.3(CACNA1S):c.1151-195C>A rs16847694 0.01505
NM_000069.3(CACNA1S):c.901-149C>G rs76916153 0.01196
NM_000069.3(CACNA1S):c.3862-251T>A rs12059309 0.01129
NM_000069.3(CACNA1S):c.1828-54G>C rs145327352 0.01079
NM_000069.3(CACNA1S):c.2063+43G>A rs114398687 0.01055
NM_000069.3(CACNA1S):c.3862-223C>T rs78775906 0.01035
NM_000069.3(CACNA1S):c.2227+299C>T rs115274946 0.00995
NM_000069.3(CACNA1S):c.1233-111G>A rs147434169 0.00984
NM_000069.3(CACNA1S):c.1394-190T>A rs140560317 0.00984
NM_000069.3(CACNA1S):c.1005-256G>A rs111258345 0.00977
NM_000069.3(CACNA1S):c.3526-197A>G rs79649129 0.00962
NM_000069.3(CACNA1S):c.2551-192A>G rs76779825 0.00939
NM_000069.3(CACNA1S):c.2551-76C>T rs77305310 0.00921
NM_000069.3(CACNA1S):c.2227+246G>C rs115435141 0.00913
NM_000069.3(CACNA1S):c.3795+74C>A rs73072961 0.00911
NM_000069.3(CACNA1S):c.1393+226C>T rs16847684 0.00892
NM_000069.3(CACNA1S):c.2746-123del rs201570722 0.00862
NM_000069.3(CACNA1S):c.3609+216T>C rs80305999 0.00799
NM_000069.3(CACNA1S):c.695-60C>T rs142962607 0.00790
NM_000069.3(CACNA1S):c.2361-269A>C rs147061115 0.00740
NM_000069.3(CACNA1S):c.3256-40G>T rs140285296 0.00739
NM_000069.3(CACNA1S):c.1620-27C>T rs114440565 0.00724
NM_000069.3(CACNA1S):c.2063+275G>A rs115120991 0.00680
NM_000069.3(CACNA1S):c.1393+177G>A rs116258903 0.00674
NM_000069.3(CACNA1S):c.3415-283T>C rs140140749 0.00674
NM_000069.3(CACNA1S):c.1150+94A>G rs114756384 0.00642
NM_000069.3(CACNA1S):c.3795+53T>G rs143117025 0.00617
NM_000069.3(CACNA1S):c.3954-80C>A rs146379117 0.00614
NM_000069.3(CACNA1S):c.2490+127A>G rs116109841 0.00596
NM_000069.3(CACNA1S):c.3053+170A>G rs185173649 0.00582
NM_000069.3(CACNA1S):c.259-43C>T rs114176807 0.00574
NM_000069.3(CACNA1S):c.4668+19T>C rs140742077 0.00573
NM_000069.3(CACNA1S):c.2063+253C>T rs115456118 0.00571
NM_000069.3(CACNA1S):c.-68T>C rs140748567 0.00558
NM_000069.3(CACNA1S):c.2158-283G>T rs188358124 0.00537
NM_000069.3(CACNA1S):c.3861+131A>G rs187640240 0.00530
NM_000069.3(CACNA1S):c.399-248A>C rs74981528 0.00528
NM_000069.3(CACNA1S):c.3667-64G>A rs141306828 0.00520
NM_000069.3(CACNA1S):c.4114-75A>G rs11809992 0.00502
NM_000069.3(CACNA1S):c.3862-69G>A rs59596965 0.00495
NM_000069.3(CACNA1S):c.1005-154C>T rs188358034 0.00493
NM_000069.3(CACNA1S):c.1233-40C>T rs180701604 0.00493
NM_000069.3(CACNA1S):c.1828-57A>G rs115866349 0.00476
NM_000069.3(CACNA1S):c.5135-66C>T rs148664397 0.00476
NM_000069.3(CACNA1S):c.*310A>T rs190783634 0.00475
NM_000069.3(CACNA1S):c.2360+281T>C rs115741326 0.00475
NC_000001.11:g.201112814C>T rs114429229 0.00467
NM_000069.3(CACNA1S):c.3415-30del rs148535810 0.00454
NM_000069.3(CACNA1S):c.5135-290G>A rs115307903 0.00451
NM_000069.3(CACNA1S):c.4441+33T>G rs199507117 0.00448
NM_000069.3(CACNA1S):c.2550+274C>T rs143334996 0.00442
NM_000069.3(CACNA1S):c.2745+14C>T rs74138824 0.00433
NM_000069.3(CACNA1S):c.2906+155G>A rs112142639 0.00411
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505 0.00409
NM_000069.3(CACNA1S):c.3667-65C>T rs76527745 0.00408
NM_000069.3(CACNA1S):c.3954-290G>A rs76304820 0.00399
NM_000069.3(CACNA1S):c.2658-206T>C rs573634357 0.00398
NM_000069.3(CACNA1S):c.1232+142C>T rs116077336 0.00394
NM_000069.3(CACNA1S):c.3053+148T>A rs76840709 0.00386
NM_000069.3(CACNA1S):c.1619+299C>A rs144563050 0.00373
NM_000069.3(CACNA1S):c.2658-74G>C rs192846397 0.00360
NM_000069.3(CACNA1S):c.2157+233G>A rs371992281 0.00351
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245 0.00349
NM_000069.3(CACNA1S):c.4543+141C>T rs144505511 0.00342
NM_000069.3(CACNA1S):c.-60A>G rs145803564 0.00335
NM_000069.3(CACNA1S):c.2854-199T>C rs549897928 0.00314
NM_000069.3(CACNA1S):c.2854-198G>T rs535987356 0.00303
NM_000069.3(CACNA1S):c.2550+156A>G rs115314061 0.00299
NM_000069.3(CACNA1S):c.4338+130C>A rs114661915 0.00295
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817 0.00246
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196 0.00234
NM_000069.3(CACNA1S):c.901-349G>C rs138145248 0.00230
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482 0.00228
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169 0.00210
NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156 0.00172
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302 0.00159
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr) rs139956524 0.00133
NM_000069.3(CACNA1S):c.5371-19C>T rs201064986 0.00121
NM_000069.3(CACNA1S):c.165G>A (p.Thr55=) rs150520884 0.00100
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959 0.00098
NM_000069.3(CACNA1S):c.5370+10G>A rs368138384 0.00096
NM_000069.3(CACNA1S):c.900+14C>T rs377170574 0.00093
NM_000069.3(CACNA1S):c.3954-47G>A rs182225461 0.00090
NM_000069.3(CACNA1S):c.2601C>T (p.Tyr867=) rs34374418 0.00076
NM_000069.3(CACNA1S):c.4114-8T>C rs373675720 0.00076
NM_000069.3(CACNA1S):c.3425A>C (p.Gln1142Pro) rs139373152 0.00073
NM_000069.3(CACNA1S):c.5087C>T (p.Thr1696Met) rs367577681 0.00070
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=) rs148680317 0.00055
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745 0.00052
NM_000069.3(CACNA1S):c.4339-14G>A rs200570483 0.00051
NM_000069.3(CACNA1S):c.1948+18G>A rs113175669 0.00035
NM_000069.3(CACNA1S):c.540T>C (p.Pro180=) rs138245131 0.00032
NM_000069.3(CACNA1S):c.2361-11C>T rs376279583 0.00030
NM_000069.3(CACNA1S):c.542-13C>T rs199502458 0.00029
NM_000069.3(CACNA1S):c.4114-3C>T rs182873269 0.00028
NM_000069.3(CACNA1S):c.1395C>T (p.Asp465=) rs189129662 0.00027
NM_000069.3(CACNA1S):c.324C>T (p.Tyr108=) rs200487405 0.00026
NM_000069.3(CACNA1S):c.2657+9C>T rs375784883 0.00025
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=) rs141717649 0.00022
NM_000069.3(CACNA1S):c.2657+10G>A rs371339601 0.00022
NM_000069.3(CACNA1S):c.2490+5C>T rs369813191 0.00016
NM_000069.3(CACNA1S):c.4026G>A (p.Ser1342=) rs757432785 0.00016
NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=) rs147646714 0.00015
NM_000069.3(CACNA1S):c.4377C>T (p.Gly1459=) rs138189035 0.00015
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255 0.00013
NM_000069.3(CACNA1S):c.789C>A (p.Gly263=) rs368173398 0.00013
NM_000069.3(CACNA1S):c.1948+13G>C rs538625530 0.00011
NM_000069.3(CACNA1S):c.2296C>A (p.Leu766Met) rs771865391 0.00011
NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr) rs145340252 0.00011
NM_000069.3(CACNA1S):c.5227-20C>T rs377205612 0.00011
NM_000069.3(CACNA1S):c.2658G>A (p.Glu886=) rs140924492 0.00010
NM_000069.3(CACNA1S):c.1949-6G>A rs373698107 0.00009
NM_000069.3(CACNA1S):c.3953+16C>T rs201874906 0.00007
NM_000069.3(CACNA1S):c.5592C>T (p.Ser1864=) rs751405561 0.00007
NM_000069.3(CACNA1S):c.1619+10G>A rs374195664 0.00006
NM_000069.3(CACNA1S):c.3796-13G>A rs374572342 0.00006
NM_000069.3(CACNA1S):c.4669-11G>A rs376672151 0.00006
NM_000069.3(CACNA1S):c.1393+16G>A rs374866886 0.00005
NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=) rs376863448 0.00005
NM_000069.3(CACNA1S):c.398+3G>A rs764710968 0.00005
NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=) rs765581827 0.00005
NM_000069.3(CACNA1S):c.2835C>T (p.Ile945=) rs753072795 0.00004
NM_000069.3(CACNA1S):c.1290G>A (p.Lys430=) rs1241905770 0.00003
NM_000069.3(CACNA1S):c.1393+11A>T rs753604199 0.00003
NM_000069.3(CACNA1S):c.1393+18G>T rs199625342 0.00003
NM_000069.3(CACNA1S):c.2148C>T (p.Thr716=) rs747075757 0.00003
NM_000069.3(CACNA1S):c.3129C>A (p.Ile1043=) rs774801845 0.00003
NM_000069.3(CACNA1S):c.588C>G (p.Leu196=) rs746654928 0.00003
NM_000069.3(CACNA1S):c.915C>T (p.Ile305=) rs376517944 0.00003
NM_000069.3(CACNA1S):c.1467C>T (p.Arg489=) rs1384040104 0.00002
NM_000069.3(CACNA1S):c.1619+15C>T rs771698501 0.00002
NM_000069.3(CACNA1S):c.2310C>T (p.Ala770=) rs113659687 0.00002
NM_000069.3(CACNA1S):c.4242-5C>T rs749316339 0.00002
NM_000069.3(CACNA1S):c.5135-4A>G rs1388042700 0.00002
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=) rs754213830 0.00002
NM_000069.3(CACNA1S):c.2142C>A (p.Ile714=) rs1057524027 0.00001
NM_000069.3(CACNA1S):c.2289G>A (p.Glu763=) rs1427158400 0.00001
NM_000069.3(CACNA1S):c.2907-16G>A rs756591873 0.00001
NM_000069.3(CACNA1S):c.3609+11G>A rs1572032981 0.00001
NM_000069.3(CACNA1S):c.3667-4G>A rs762497596 0.00001
NM_000069.3(CACNA1S):c.4956C>T (p.Arg1652=) rs775497469 0.00001
NM_000069.3(CACNA1S):c.5048+8C>T rs759622507 0.00001
NM_000069.3(CACNA1S):c.870C>T (p.Thr290=) rs780305979 0.00001
NM_000069.3(CACNA1S):c.900+9G>A rs1454687459 0.00001
NM_000069.3(CACNA1S):c.1047C>T (p.Thr349=) rs542505383
NM_000069.3(CACNA1S):c.152+17G>A rs113558244
NM_000069.3(CACNA1S):c.152+24dup rs112984935
NM_000069.3(CACNA1S):c.152+26G>A rs74875474
NM_000069.3(CACNA1S):c.152+26G>C rs74875474
NM_000069.3(CACNA1S):c.152+26G>T rs74875474
NM_000069.3(CACNA1S):c.153-349T>C rs144528856
NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu) rs140662085
NM_000069.3(CACNA1S):c.1563C>A (p.Pro521=) rs775975526
NM_000069.3(CACNA1S):c.1611G>A (p.Lys537=) rs765888271
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
NM_000069.3(CACNA1S):c.1884C>G (p.Gly628=) rs200743095
NM_000069.3(CACNA1S):c.2454G>A (p.Ala818=) rs141619541
NM_000069.3(CACNA1S):c.2505T>C (p.Phe835=) rs1057524226
NM_000069.3(CACNA1S):c.2551-347A>C rs74138825
NM_000069.3(CACNA1S):c.258+31C>A rs116259814
NM_000069.3(CACNA1S):c.259-149dup rs201338755
NM_000069.3(CACNA1S):c.2657+253G>A rs114191689
NM_000069.3(CACNA1S):c.2854-33CCTC[6] rs747117832
NM_000069.3(CACNA1S):c.2854-89C>G rs2275484
NM_000069.3(CACNA1S):c.3054-148C>T rs16847607
NM_000069.3(CACNA1S):c.3255+185G>C rs61451656
NM_000069.3(CACNA1S):c.3610-167A>C rs988057279
NM_000069.3(CACNA1S):c.373C>T (p.Leu125=) rs1464376202
NM_000069.3(CACNA1S):c.3953+14G>A rs201077181
NM_000069.3(CACNA1S):c.4419G>A (p.Thr1473=) rs540448406
NM_000069.3(CACNA1S):c.4425C>T (p.Leu1475=) rs1553248697
NM_000069.3(CACNA1S):c.4668+290G>A rs146835418
NM_000069.3(CACNA1S):c.694+241_694+242insCA rs1553252709

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