ClinVar Miner

List of variants in gene CACNA1S reported as benign for muscular channelopathy

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.4113+7T>C rs6702590 0.77496
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_000069.3(CACNA1S):c.1551T>C (p.Gly517=) rs4915477 0.70571
NM_000069.3(CACNA1S):c.2403T>C (p.Phe801=) rs7415038 0.43715
NM_000069.3(CACNA1S):c.597C>T (p.Ile199=) rs2296383 0.32034
NM_000069.2(CACNA1S):c.-231A>G rs4506487 0.28191
NM_000069.3(CACNA1S):c.1515T>C (p.Cys505=) rs9427714 0.24503
NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser) rs12139527 0.24484
NM_000069.3(CACNA1S):c.1373T>A (p.Leu458His) rs12742169 0.24315
NM_000069.3(CACNA1S):c.1564C>T (p.Leu522=) rs4915476 0.23047
NM_000069.3(CACNA1S):c.1371T>G (p.Pro457=) rs12742170 0.22856
NM_000069.3(CACNA1S):c.4543+7G>A rs2297905 0.19414
NM_000069.3(CACNA1S):c.4973G>A (p.Arg1658His) rs13374149 0.11390
NM_000069.3(CACNA1S):c.4860C>T (p.Pro1620=) rs41267497 0.10778
NM_000069.3(CACNA1S):c.1491C>T (p.Asn497=) rs16847674 0.09605
NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) rs3850625 0.08709
NM_000069.3(CACNA1S):c.2746-14C>T rs113792034 0.03828
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479 0.03481
NM_000069.3(CACNA1S):c.2673C>T (p.Ser891=) rs16847623 0.02892
NM_000069.3(CACNA1S):c.1548G>A (p.Ser516=) rs16847669 0.02707
NM_000069.3(CACNA1S):c.1393+7C>T rs3767512 0.02512
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703 0.02430
NM_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902 0.02034
NM_000069.3(CACNA1S):c.-83C>T rs116071603 0.01915
NM_000069.3(CACNA1S):c.3822C>T (p.Ile1274=) rs56183942 0.01893
NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=) rs61734621 0.01658
NM_000069.3(CACNA1S):c.3796-9G>A rs142184434 0.01603
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911 0.01583
NM_000069.3(CACNA1S):c.3053+13T>C rs41267501 0.01237
NM_000069.3(CACNA1S):c.3953+6C>T rs115707724 0.01059
NM_000069.3(CACNA1S):c.2480T>C (p.Met827Thr) rs61238538 0.01045
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235 0.00873
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559 0.00797
NM_000069.3(CACNA1S):c.2361-13C>T rs2182117 0.00658
NM_000069.3(CACNA1S):c.1995C>T (p.Ala665=) rs16847664 0.00657
NM_000069.3(CACNA1S):c.3811G>A (p.Ala1271Thr) rs138144724 0.00615
NM_000069.3(CACNA1S):c.399-14C>T rs116534514 0.00590
NM_000069.3(CACNA1S):c.4668+19T>C rs140742077 0.00573
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=) rs112868209 0.00555
NM_000069.3(CACNA1S):c.*310A>T rs190783634 0.00503
NM_000069.3(CACNA1S):c.2784C>T (p.Ile928=) rs143483718 0.00479
NM_000069.3(CACNA1S):c.2745+14C>T rs74138824 0.00464
NM_000069.3(CACNA1S):c.4053A>G (p.Thr1351=) rs13376324 0.00448
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505 0.00409
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245 0.00349
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817 0.00246
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196 0.00241
NM_000069.3(CACNA1S):c.5134+8C>T rs114243233 0.00238
NM_000069.3(CACNA1S):c.2227+15G>A rs192276596 0.00236
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482 0.00228
NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156 0.00172
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302 0.00170
NM_000069.3(CACNA1S):c.5371-19C>T rs201064986 0.00121
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096 0.00113
NM_000069.3(CACNA1S):c.165G>A (p.Thr55=) rs150520884 0.00100
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959 0.00097
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.2259G>A (p.Pro753=) rs200971359 0.00088
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.4338+13G>T rs370782181 0.00075
NM_000069.3(CACNA1S):c.5087C>T (p.Thr1696Met) rs367577681 0.00070
NM_000069.3(CACNA1S):c.3796-11C>T rs369565379 0.00061
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419 0.00059
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=) rs148680317 0.00055
NM_000069.3(CACNA1S):c.1506C>T (p.Phe502=) rs141808465 0.00053
NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser) rs146136274 0.00045
NM_000069.3(CACNA1S):c.1382C>T (p.Thr461Ile) rs143202536 0.00032
NM_000069.3(CACNA1S):c.2361-11C>T rs376279583 0.00030
NM_000069.3(CACNA1S):c.542-13C>T rs199502458 0.00030
NM_000069.3(CACNA1S):c.324C>T (p.Tyr108=) rs200487405 0.00026
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212 0.00022
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met) rs200665694 0.00021
NM_000069.3(CACNA1S):c.3256-12T>A rs374335683 0.00019
NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala) rs377459546 0.00018
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=) rs144883479 0.00016
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys) rs201205904 0.00016
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831 0.00016
NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=) rs147646714 0.00016
NM_000069.3(CACNA1S):c.1465C>T (p.Arg489Cys) rs138364213 0.00013
NM_000069.3(CACNA1S):c.2906+17G>A rs202089480 0.00013
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255 0.00013
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val) rs148770452 0.00011
NM_000069.3(CACNA1S):c.2582G>C (p.Gly861Ala) rs369192794 0.00011
NM_000069.3(CACNA1S):c.3415-13G>T rs755431424 0.00011
NM_000069.3(CACNA1S):c.4818C>T (p.Gly1606=) rs146619460 0.00011
NM_000069.3(CACNA1S):c.4858C>G (p.Pro1620Ala) rs199691275 0.00011
NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr) rs145340252 0.00011
NM_000069.3(CACNA1S):c.951C>T (p.Leu317=) rs773209639 0.00011
NM_000069.3(CACNA1S):c.1395C>T (p.Asp465=) rs189129662 0.00010
NM_000069.3(CACNA1S):c.1348G>A (p.Ala450Thr) rs150218077 0.00009
NM_000069.3(CACNA1S):c.1881C>T (p.Tyr627=) rs145689664 0.00009
NM_000069.3(CACNA1S):c.2467C>T (p.Arg823Trp) rs199758244 0.00009
NM_000069.3(CACNA1S):c.3067G>A (p.Ala1023Thr) rs551510986 0.00009
NM_000069.3(CACNA1S):c.2628G>T (p.Val876=) rs200898535 0.00008
NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg) rs751048080 0.00008
NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn) rs112236248 0.00007
NM_000069.3(CACNA1S):c.1780C>T (p.Arg594Cys) rs200165212 0.00007
NM_000069.3(CACNA1S):c.3027G>A (p.Thr1009=) rs371818752 0.00007
NM_000069.3(CACNA1S):c.3796-14C>T rs377210987 0.00007
NM_000069.3(CACNA1S):c.2468G>A (p.Arg823Gln) rs553619980 0.00006
NM_000069.3(CACNA1S):c.2550+17G>A rs186271965 0.00006
NM_000069.3(CACNA1S):c.304G>A (p.Ala102Thr) rs753901380 0.00006
NM_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser) rs145039828 0.00006
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=) rs189797100 0.00006
NM_000069.3(CACNA1S):c.3761G>A (p.Arg1254Gln) rs530655602 0.00006
NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=) rs149036408 0.00006
NM_000069.3(CACNA1S):c.755G>A (p.Arg252His) rs766838790 0.00006
NM_000069.3(CACNA1S):c.1936G>A (p.Val646Ile) rs139860737 0.00005
NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=) rs376863448 0.00005
NM_000069.3(CACNA1S):c.4525G>A (p.Val1509Ile) rs775885648 0.00005
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His) rs141031133 0.00004
NM_000069.3(CACNA1S):c.2218G>A (p.Asp740Asn) rs752513328 0.00004
NM_000069.3(CACNA1S):c.2482A>G (p.Arg828Gly) rs1174225838 0.00004
NM_000069.3(CACNA1S):c.2667C>T (p.Ala889=) rs188071541 0.00004
NM_000069.3(CACNA1S):c.4705G>A (p.Glu1569Lys) rs138768414 0.00004
NM_000069.3(CACNA1S):c.5381G>A (p.Arg1794Gln) rs139945826 0.00004
NM_000069.3(CACNA1S):c.86G>A (p.Arg29Gln) rs758594181 0.00004
NM_000069.3(CACNA1S):c.1393+11A>T rs753604199 0.00003
NM_000069.3(CACNA1S):c.1845C>T (p.Asp615=) rs200091030 0.00003
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn) rs200844059 0.00003
NM_000069.3(CACNA1S):c.225G>A (p.Pro75=) rs143816534 0.00003
NM_000069.3(CACNA1S):c.2794G>A (p.Val932Met) rs373701906 0.00003
NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu) rs149658326 0.00003
NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser) rs756022224 0.00002
NM_000069.3(CACNA1S):c.1530G>T (p.Glu510Asp) rs758354862 0.00002
NM_000069.3(CACNA1S):c.253G>A (p.Gly85Ser) rs369931782 0.00002
NM_000069.3(CACNA1S):c.702G>T (p.Val234=) rs752724350 0.00002
NM_000069.3(CACNA1S):c.1369C>T (p.Pro457Ser) rs372374492 0.00001
NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile) rs200066766 0.00001
NM_000069.3(CACNA1S):c.284T>C (p.Ile95Thr) rs550479246 0.00001
NM_000069.3(CACNA1S):c.2922G>A (p.Val974=) rs377715551 0.00001
NM_000069.3(CACNA1S):c.3428C>T (p.Ser1143Leu) rs756712640 0.00001
NM_000069.3(CACNA1S):c.4345G>A (p.Val1449Met) rs542998031 0.00001
NM_000069.3(CACNA1S):c.5206G>A (p.Ala1736Thr) rs776273589 0.00001
NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val) rs190152688 0.00001
NM_000069.3(CACNA1S):c.1265G>A (p.Arg422His)
NM_000069.3(CACNA1S):c.1285G>A (p.Val429Met) rs750807406
NM_000069.3(CACNA1S):c.1371_1373delinsGCA (p.Leu458His)
NM_000069.3(CACNA1S):c.1470G>A (p.Gln490=) rs373712202
NM_000069.3(CACNA1S):c.152+17G>C rs113558244
NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu) rs140662085
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
NM_000069.3(CACNA1S):c.1777C>A (p.Arg593=) rs138541733
NM_000069.3(CACNA1S):c.1778G>A (p.Arg593Gln) rs113812219
NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys) rs35708442
NM_000069.3(CACNA1S):c.2317A>G (p.Ile773Val)
NM_000069.3(CACNA1S):c.2350C>G (p.Pro784Ala)
NM_000069.3(CACNA1S):c.2454G>A (p.Ala818=) rs141619541
NM_000069.3(CACNA1S):c.2454G>T (p.Ala818=) rs141619541
NM_000069.3(CACNA1S):c.2457A>G (p.Glu819=)
NM_000069.3(CACNA1S):c.2647A>G (p.Met883Val) rs553593355
NM_000069.3(CACNA1S):c.2746-16G>A rs531717137
NM_000069.3(CACNA1S):c.2907-15dup
NM_000069.3(CACNA1S):c.3054-3del
NM_000069.3(CACNA1S):c.3124G>A (p.Ala1042Thr) rs562504992
NM_000069.3(CACNA1S):c.3261A>C (p.Gln1087His)
NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=) rs34515088
NM_000069.3(CACNA1S):c.3381C>T (p.Leu1127=)
NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His) rs774416016
NM_000069.3(CACNA1S):c.3741G>A (p.Leu1247=)
NM_000069.3(CACNA1S):c.3861+14G>T rs200654730
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.3(CACNA1S):c.4040G>T (p.Gly1347Val)
NM_000069.3(CACNA1S):c.4346T>G (p.Val1449Gly) rs79011683
NM_000069.3(CACNA1S):c.4419G>C (p.Thr1473=) rs540448406
NM_000069.3(CACNA1S):c.4565A>G (p.Lys1522Arg)
NM_000069.3(CACNA1S):c.4616G>A (p.Arg1539His) rs774256022
NM_000069.3(CACNA1S):c.5001T>C (p.Asn1667=)
NM_000069.3(CACNA1S):c.541+9C>T rs375541532
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs) rs554596425
NM_000069.3(CACNA1S):c.5531G>C (p.Ser1844Thr)
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val) rs35534614
NM_000069.3(CACNA1S):c.948C>T (p.Thr316=)

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