ClinVar Miner

List of variants in gene CACNA1S reported by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 233
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=) rs61734621 0.01658
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911 0.01583
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169 0.00210
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.5370+10G>A rs368138384 0.00096
NM_000069.3(CACNA1S):c.900+14C>T rs377170574 0.00093
NM_000069.3(CACNA1S):c.4338+13G>T rs370782181 0.00075
NM_000069.3(CACNA1S):c.3425A>C (p.Gln1142Pro) rs139373152 0.00073
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419 0.00059
NM_000069.3(CACNA1S):c.4521C>T (p.Asp1507=) rs150962971 0.00038
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=) rs141717649 0.00022
NM_000069.3(CACNA1S):c.3334T>G (p.Trp1112Gly) rs151218760 0.00019
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=) rs144883479 0.00016
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=) rs528563981 0.00016
NM_000069.3(CACNA1S):c.1777C>T (p.Arg593Trp) rs138541733 0.00016
NM_000069.3(CACNA1S):c.258+6A>G rs376899610 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.4026G>A (p.Ser1342=) rs757432785 0.00016
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln) rs377474103 0.00014
NM_000069.3(CACNA1S):c.4176C>G (p.Ser1392=) rs200935259 0.00013
NM_000069.3(CACNA1S):c.93G>C (p.Leu31Phe) rs556751671 0.00013
NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val) rs146885451 0.00012
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val) rs148770452 0.00011
NM_000069.3(CACNA1S):c.3905G>A (p.Arg1302Gln) rs200042281 0.00011
NM_000069.3(CACNA1S):c.4818C>T (p.Gly1606=) rs146619460 0.00011
NM_000069.3(CACNA1S):c.5227-20C>T rs377205612 0.00011
NM_000069.3(CACNA1S):c.900+17G>A rs373839474 0.00011
NM_000069.3(CACNA1S):c.2520C>T (p.Thr840=) rs147076871 0.00010
NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met) rs200334886 0.00010
NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His) rs747618077 0.00010
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met) rs183195890 0.00010
NM_000069.3(CACNA1S):c.984G>T (p.Leu328=) rs367685667 0.00010
NM_000069.3(CACNA1S):c.1151-18T>C rs112628416 0.00009
NM_000069.3(CACNA1S):c.1348G>A (p.Ala450Thr) rs150218077 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.3525+7del rs759199210 0.00009
NM_000069.3(CACNA1S):c.2361-10G>A rs533238983 0.00008
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.1619+9C>T rs372942667 0.00007
NM_000069.3(CACNA1S):c.3429G>A (p.Ser1143=) rs373033092 0.00007
NM_000069.3(CACNA1S):c.3454A>G (p.Ile1152Val) rs142286187 0.00007
NM_000069.3(CACNA1S):c.700G>A (p.Val234Met) rs370661912 0.00007
NM_000069.3(CACNA1S):c.1345A>G (p.Ile449Val) rs369139165 0.00006
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His) rs146696298 0.00006
NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr) rs144590408 0.00006
NM_000069.3(CACNA1S):c.2376T>C (p.Cys792=) rs528604695 0.00006
NM_000069.3(CACNA1S):c.2491-20C>T rs200340608 0.00006
NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val) rs200646947 0.00006
NM_000069.3(CACNA1S):c.2729G>A (p.Arg910Lys) rs375318710 0.00006
NM_000069.3(CACNA1S):c.2773A>G (p.Ile925Val) rs138708497 0.00006
NM_000069.3(CACNA1S):c.304G>A (p.Ala102Thr) rs753901380 0.00006
NM_000069.3(CACNA1S):c.3210G>A (p.Glu1070=) rs200893062 0.00006
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782 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.3796-13G>A rs374572342 0.00006
NM_000069.3(CACNA1S):c.4414C>T (p.Arg1472Cys) rs201257304 0.00006
NM_000069.3(CACNA1S):c.4669-11G>A rs376672151 0.00006
NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile) rs756066219 0.00006
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln) rs763360081 0.00005
NM_000069.3(CACNA1S):c.1828G>T (p.Val610Leu) rs756131999 0.00005
NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser) rs139935847 0.00005
NM_000069.3(CACNA1S):c.336C>G (p.Phe112Leu) rs374324813 0.00005
NM_000069.3(CACNA1S):c.4525G>A (p.Val1509Ile) rs775885648 0.00005
NM_000069.3(CACNA1S):c.852C>T (p.Thr284=) rs372633174 0.00005
NM_000069.3(CACNA1S):c.1151G>A (p.Gly384Glu) rs201737381 0.00004
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His) rs141031133 0.00004
NM_000069.3(CACNA1S):c.2148C>T (p.Thr716=) rs747075757 0.00004
NM_000069.3(CACNA1S):c.2380C>T (p.Arg794Cys) rs373328930 0.00004
NM_000069.3(CACNA1S):c.2667C>T (p.Ala889=) rs188071541 0.00004
NM_000069.3(CACNA1S):c.2822T>C (p.Met941Thr) rs575247457 0.00004
NM_000069.3(CACNA1S):c.2839G>A (p.Val947Ile) rs76460090 0.00004
NM_000069.3(CACNA1S):c.3091G>A (p.Val1031Met) rs777328046 0.00004
NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln) rs775009783 0.00004
NM_000069.3(CACNA1S):c.3796-19G>A rs369787862 0.00004
NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His) rs201463541 0.00004
NM_000069.3(CACNA1S):c.4543+4G>A rs776190353 0.00004
NM_000069.3(CACNA1S):c.4705G>A (p.Glu1569Lys) rs138768414 0.00004
NM_000069.3(CACNA1S):c.5370+7C>T rs571061537 0.00004
NM_000069.3(CACNA1S):c.5381G>A (p.Arg1794Gln) rs139945826 0.00004
NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp) rs186538122 0.00004
NM_000069.3(CACNA1S):c.87G>T (p.Arg29=) rs748352939 0.00004
NM_000069.3(CACNA1S):c.1383C>G (p.Thr461=) rs144920422 0.00003
NM_000069.3(CACNA1S):c.1393+11A>T rs753604199 0.00003
NM_000069.3(CACNA1S):c.1552G>A (p.Ala518Thr) rs776209588 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.2919C>T (p.Tyr973=) rs751043315 0.00003
NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu) rs149658326 0.00003
NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His) rs774884290 0.00003
NM_000069.3(CACNA1S):c.3610-17G>A rs368357562 0.00003
NM_000069.3(CACNA1S):c.3667-5C>T rs368885124 0.00003
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu) rs749856222 0.00003
NM_000069.3(CACNA1S):c.4032T>C (p.Tyr1344=) rs138167275 0.00003
NM_000069.3(CACNA1S):c.409G>A (p.Val137Met) rs753195502 0.00003
NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu) rs970352258 0.00003
NM_000069.3(CACNA1S):c.4543+15G>A rs746717103 0.00003
NM_000069.3(CACNA1S):c.865A>G (p.Ile289Val) rs139920212 0.00003
NM_000069.3(CACNA1S):c.915C>T (p.Ile305=) rs376517944 0.00003
NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser) rs756022224 0.00002
NM_000069.3(CACNA1S):c.1302C>T (p.Phe434=) rs1051111849 0.00002
NM_000069.3(CACNA1S):c.1305T>C (p.Tyr435=) rs763639897 0.00002
NM_000069.3(CACNA1S):c.1347C>T (p.Ile449=) rs754689047 0.00002
NM_000069.3(CACNA1S):c.1519G>A (p.Gly507Ser) rs554729466 0.00002
NM_000069.3(CACNA1S):c.1530G>T (p.Glu510Asp) rs758354862 0.00002
NM_000069.3(CACNA1S):c.2273C>T (p.Pro758Leu) rs759887262 0.00002
NM_000069.3(CACNA1S):c.253G>A (p.Gly85Ser) rs369931782 0.00002
NM_000069.3(CACNA1S):c.259-14G>A rs762197754 0.00002
NM_000069.3(CACNA1S):c.2749G>A (p.Val917Met) rs751833750 0.00002
NM_000069.3(CACNA1S):c.2767G>A (p.Val923Met) rs571902899 0.00002
NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=) rs759934490 0.00002
NM_000069.3(CACNA1S):c.2853+18C>T rs768391679 0.00002
NM_000069.3(CACNA1S):c.2853+6C>T rs376299130 0.00002
NM_000069.3(CACNA1S):c.2854-15T>G rs1405252446 0.00002
NM_000069.3(CACNA1S):c.2901G>A (p.Glu967=) rs745738564 0.00002
NM_000069.3(CACNA1S):c.3053+19C>G rs372276351 0.00002
NM_000069.3(CACNA1S):c.3331G>A (p.Val1111Met) rs200558548 0.00002
NM_000069.3(CACNA1S):c.3610-18C>T rs747616430 0.00002
NM_000069.3(CACNA1S):c.3745C>T (p.Arg1249Trp) rs762394267 0.00002
NM_000069.3(CACNA1S):c.4441+3G>A rs886045795 0.00002
NM_000069.3(CACNA1S):c.4501A>G (p.Thr1501Ala) rs373248127 0.00002
NM_000069.3(CACNA1S):c.4796G>A (p.Arg1599Gln) rs946904077 0.00002
NM_000069.3(CACNA1S):c.5237T>C (p.Val1746Ala) rs1187716461 0.00002
NM_000069.3(CACNA1S):c.5575G>A (p.Asp1859Asn) rs191263754 0.00002
NM_000069.3(CACNA1S):c.707C>T (p.Thr236Met) rs767790285 0.00002
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=) rs754213830 0.00002
NM_000069.3(CACNA1S):c.772G>A (p.Gly258Ser) rs886045801 0.00002
NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser) rs375704313 0.00002
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter) rs767052156 0.00001
NM_000069.3(CACNA1S):c.1369C>T (p.Pro457Ser) rs372374492 0.00001
NM_000069.3(CACNA1S):c.1370C>T (p.Pro457Leu) rs1450678337 0.00001
NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met) rs140246559 0.00001
NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile) rs200066766 0.00001
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777 0.00001
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) rs80338777 0.00001
NM_000069.3(CACNA1S):c.1628C>T (p.Thr543Met) rs777962341 0.00001
NM_000069.3(CACNA1S):c.1827+6C>T rs202244301 0.00001
NM_000069.3(CACNA1S):c.1919A>G (p.Tyr640Cys) rs1347247620 0.00001
NM_000069.3(CACNA1S):c.1957C>T (p.Leu653Phe) rs757750396 0.00001
NM_000069.3(CACNA1S):c.2164A>G (p.Ile722Val) rs774585202 0.00001
NM_000069.3(CACNA1S):c.2245G>A (p.Glu749Lys) rs1313818230 0.00001
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633 0.00001
NM_000069.3(CACNA1S):c.2361-3C>T rs774194599 0.00001
NM_000069.3(CACNA1S):c.2658-10C>T rs760659248 0.00001
NM_000069.3(CACNA1S):c.2766C>T (p.Phe922=) rs376393159 0.00001
NM_000069.3(CACNA1S):c.2854-6C>T rs1033462438 0.00001
NM_000069.3(CACNA1S):c.2922G>A (p.Val974=) rs377715551 0.00001
NM_000069.3(CACNA1S):c.3137T>A (p.Ile1046Asn) rs749706205 0.00001
NM_000069.3(CACNA1S):c.3166A>G (p.Met1056Val) rs757165791 0.00001
NM_000069.3(CACNA1S):c.331T>C (p.Leu111=) rs1453821550 0.00001
NM_000069.3(CACNA1S):c.340C>A (p.Gln114Lys) rs776320792 0.00001
NM_000069.3(CACNA1S):c.3437T>A (p.Met1146Lys) rs763707356 0.00001
NM_000069.3(CACNA1S):c.356G>C (p.Arg119Pro) rs749588662 0.00001
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr) rs200366112 0.00001
NM_000069.3(CACNA1S):c.3636G>A (p.Leu1212=) rs774191804 0.00001
NM_000069.3(CACNA1S):c.3754G>A (p.Gly1252Arg) rs768780512 0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041 0.00001
NM_000069.3(CACNA1S):c.3943C>T (p.Leu1315=) rs1262731998 0.00001
NM_000069.3(CACNA1S):c.4025C>T (p.Ser1342Leu) rs563795648 0.00001
NM_000069.3(CACNA1S):c.4242-10C>G rs574154912 0.00001
NM_000069.3(CACNA1S):c.4242-4G>A rs780264366 0.00001
NM_000069.3(CACNA1S):c.4374C>T (p.Asp1458=) rs757017761 0.00001
NM_000069.3(CACNA1S):c.4490T>C (p.Ile1497Thr) rs752620158 0.00001
NM_000069.3(CACNA1S):c.4650G>T (p.Lys1550Asn) rs1413666626 0.00001
NM_000069.3(CACNA1S):c.4984A>T (p.Asn1662Tyr) rs200772623 0.00001
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231 0.00001
NM_000069.3(CACNA1S):c.5048+8C>T rs759622507 0.00001
NM_000069.3(CACNA1S):c.5135-7C>T rs886038223 0.00001
NM_000069.3(CACNA1S):c.5150C>G (p.Pro1717Arg) rs758722244 0.00001
NM_000069.3(CACNA1S):c.5248A>G (p.Met1750Val) rs771065920 0.00001
NM_000069.3(CACNA1S):c.531G>A (p.Ser177=) rs750087191 0.00001
NM_000069.3(CACNA1S):c.541+18T>A rs760602154 0.00001
NM_000069.3(CACNA1S):c.541+7G>A rs1218931598 0.00001
NM_000069.3(CACNA1S):c.695-5T>A rs1487979476 0.00001
NM_000069.3(CACNA1S):c.736G>A (p.Ala246Thr) rs779799849 0.00001
NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val) rs190152688 0.00001
NM_000069.3(CACNA1S):c.806A>G (p.Asn269Ser) rs1028599438 0.00001
NM_000069.3(CACNA1S):c.1123G>T (p.Val375Phe) rs1174671318
NM_000069.3(CACNA1S):c.1277A>G (p.His426Arg) rs749572656
NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn) rs143202536
NM_000069.3(CACNA1S):c.1401_1414del (p.Asn468fs) rs2102144416
NM_000069.3(CACNA1S):c.1430C>T (p.Thr477Ile) rs1235626524
NM_000069.3(CACNA1S):c.143T>C (p.Val48Ala) rs977298165
NM_000069.3(CACNA1S):c.14C>T (p.Ser5Leu) rs772738139
NM_000069.3(CACNA1S):c.162G>T (p.Glu54Asp) rs569061608
NM_000069.3(CACNA1S):c.164C>T (p.Thr55Met) rs549107212
NM_000069.3(CACNA1S):c.1660A>G (p.Asn554Asp) rs1661653168
NM_000069.3(CACNA1S):c.1778G>A (p.Arg593Gln) rs113812219
NM_000069.3(CACNA1S):c.1781G>T (p.Arg594Leu) rs762032797
NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter) rs1572048220
NM_000069.3(CACNA1S):c.1884C>T (p.Gly628=) rs200743095
NM_000069.3(CACNA1S):c.1981G>A (p.Val661Met) rs764736462
NM_000069.3(CACNA1S):c.2270G>A (p.Arg757Gln) rs868409473
NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu) rs553593355
NM_000069.3(CACNA1S):c.2647A>G (p.Met883Val) rs553593355
NM_000069.3(CACNA1S):c.2746-16G>A rs531717137
NM_000069.3(CACNA1S):c.2812del (p.Leu938fs) rs1572038993
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met) rs757840865
NM_000069.3(CACNA1S):c.2979C>T (p.Ser993=) rs146497999
NM_000069.3(CACNA1S):c.3256C>G (p.Arg1086Gly) rs80338782
NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His) rs774416016
NM_000069.3(CACNA1S):c.3752_3754del (p.Glu1251del) rs1283443722
NM_000069.3(CACNA1S):c.3760C>G (p.Arg1254Gly) rs200034567
NM_000069.3(CACNA1S):c.3861+14G>T rs200654730
NM_000069.3(CACNA1S):c.3873G>T (p.Lys1291Asn) rs1660695433
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.3(CACNA1S):c.3953+14G>A rs201077181
NM_000069.3(CACNA1S):c.3953+5G>A rs752722907
NM_000069.3(CACNA1S):c.3998G>A (p.Ser1333Asn) rs1030338556
NM_000069.3(CACNA1S):c.4113+7_4113+8inv
NM_000069.3(CACNA1S):c.4242G>A (p.Lys1414=) rs769933784
NM_000069.3(CACNA1S):c.429C>T (p.Asn143=) rs553580116
NM_000069.3(CACNA1S):c.4569C>G (p.Phe1523Leu) rs995172326
NM_000069.3(CACNA1S):c.4972_4973delinsTA (p.Arg1658Tyr) rs1553248123
NM_000069.3(CACNA1S):c.5020A>C (p.Asn1674His) rs886045794
NM_000069.3(CACNA1S):c.5101G>A (p.Gly1701Arg) rs1660204682
NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro) rs201310235
NM_000069.3(CACNA1S):c.5129T>C (p.Val1710Ala) rs1189622818
NM_000069.3(CACNA1S):c.526G>T (p.Val176Leu) rs571114435
NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser) rs200434921
NM_000069.3(CACNA1S):c.5303A>G (p.His1768Arg) rs1255660415
NM_000069.3(CACNA1S):c.5394C>A (p.Gly1798=) rs1558047794
NM_000069.3(CACNA1S):c.542-9C>T rs767627454
NM_000069.3(CACNA1S):c.5462A>G (p.Glu1821Gly) rs1057524423
NM_000069.3(CACNA1S):c.5576A>G (p.Asp1859Gly) rs1057524424

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.