List of variants in gene CACNA1S reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 102

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HGVS	dbSNP	gnomAD frequency
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn)	rs142356235	0.00873
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)	rs145910245	0.00349
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser)	rs149547196	0.00241
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn)	rs72749169	0.00210
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr)	rs139956524	0.00135
NM_000069.3(CACNA1S):c.3795+3G>A	rs191758096	0.00113
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=)	rs144206959	0.00097
NM_000069.3(CACNA1S):c.4114-8T>C	rs373675720	0.00076
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=)	rs148680317	0.00055
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=)	rs144218745	0.00054
NM_000069.3(CACNA1S):c.-4A>G	rs200408018	0.00050
NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser)	rs146136274	0.00045
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)	rs141204958	0.00029
NM_000069.3(CACNA1S):c.324C>T (p.Tyr108=)	rs200487405	0.00026
NM_000069.3(CACNA1S):c.4747G>A (p.Glu1583Lys)	rs148273582	0.00026
NM_000069.3(CACNA1S):c.3616C>T (p.Leu1206=)	rs148105111	0.00023
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=)	rs141717649	0.00022
NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala)	rs200765341	0.00021
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met)	rs200665694	0.00021
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=)	rs144883479	0.00016
NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=)	rs147646714	0.00016
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys)	rs143933255	0.00013
NM_000069.3(CACNA1S):c.93G>C (p.Leu31Phe)	rs556751671	0.00013
NM_000069.3(CACNA1S):c.951C>T (p.Leu317=)	rs773209639	0.00011
NM_000069.3(CACNA1S):c.2658G>A (p.Glu886=)	rs140924492	0.00010
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr)	rs200434921	0.00010
NM_000069.3(CACNA1S):c.3525+7del	rs759199210	0.00009
NM_000069.3(CACNA1S):c.3657C>T (p.Cys1219=)	rs376781102	0.00009
NM_000069.3(CACNA1S):c.3664G>A (p.Val1222Ile)	rs202240111	0.00009
NM_000069.3(CACNA1S):c.2628G>T (p.Val876=)	rs200898535	0.00008
NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln)	rs372436488	0.00008
NM_000069.3(CACNA1S):c.1345A>G (p.Ile449Val)	rs369139165	0.00006
NM_000069.3(CACNA1S):c.1704C>A (p.Leu568=)	rs201748367	0.00006
NM_000069.3(CACNA1S):c.2001G>A (p.Ala667=)	rs61734612	0.00006
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys)	rs80338782	0.00006
NM_000069.3(CACNA1S):c.3761G>A (p.Arg1254Gln)	rs530655602	0.00006
NM_000069.3(CACNA1S):c.398+3G>A	rs764710968	0.00005
NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu)	rs371849585	0.00005
NM_000069.3(CACNA1S):c.2754G>A (p.Val918=)	rs150708636	0.00004
NM_000069.3(CACNA1S):c.2839G>A (p.Val947Ile)	rs76460090	0.00004
NM_000069.3(CACNA1S):c.3090C>T (p.Asp1030=)	rs766639108	0.00004
NM_000069.3(CACNA1S):c.4437G>A (p.Thr1479=)	rs200538716	0.00004
NM_000069.3(CACNA1S):c.454A>G (p.Met152Val)	rs369332959	0.00004
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr)	rs527702358	0.00004
NM_000069.3(CACNA1S):c.1383C>G (p.Thr461=)	rs144920422	0.00003
NM_000069.3(CACNA1S):c.225G>A (p.Pro75=)	rs143816534	0.00003
NM_000069.3(CACNA1S):c.588C>G (p.Leu196=)	rs746654928	0.00003
NM_000069.3(CACNA1S):c.670A>G (p.Lys224Glu)	rs374763528	0.00003
NM_000069.3(CACNA1S):c.2594G>A (p.Arg865His)	rs545411173	0.00002
NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=)	rs759934490	0.00002
NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile)	rs138265497	0.00002
NM_000069.3(CACNA1S):c.758G>A (p.Arg253Gln)	rs768015104	0.00002
NM_000069.3(CACNA1S):c.764C>T (p.Thr255Ile)	rs763637720	0.00002
NM_000069.3(CACNA1S):c.1001G>C (p.Ser334Thr)	rs1019448884	0.00001
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)	rs80338777	0.00001
NM_000069.3(CACNA1S):c.1611G>A (p.Lys537=)	rs765888271	0.00001
NM_000069.3(CACNA1S):c.1632G>A (p.Ser544=)	rs774899299	0.00001
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)	rs1157720606	0.00001
NM_000069.3(CACNA1S):c.2836G>A (p.Gly946Ser)	rs569324688	0.00001
NM_000069.3(CACNA1S):c.3419A>G (p.Tyr1140Cys)	rs1043042231	0.00001
NM_000069.3(CACNA1S):c.3609+6T>C	rs1369529387	0.00001
NM_000069.3(CACNA1S):c.3852C>T (p.Ile1284=)	rs1024486307	0.00001
NM_000069.3(CACNA1S):c.3876C>T (p.Ile1292=)	rs748525277	0.00001
NM_000069.3(CACNA1S):c.4034C>T (p.Ala1345Val)	rs763153237	0.00001
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)	rs772226819	0.00001
NM_000069.3(CACNA1S):c.736G>A (p.Ala246Thr)	rs779799849	0.00001
NM_000069.3(CACNA1S):c.1047C>T (p.Thr349=)	rs542505383
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His)	rs150590855
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu)	rs150590855
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=)	rs143999390
NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr)
NM_000069.3(CACNA1S):c.1860G>A (p.Met620Ile)
NM_000069.3(CACNA1S):c.1884C>T (p.Gly628=)	rs200743095
NM_000069.3(CACNA1S):c.18C>T (p.Pro6=)
NM_000069.3(CACNA1S):c.1926C>G (p.Ile642Met)	rs1294275087
NM_000069.3(CACNA1S):c.1944C>A (p.Gly648=)
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.2526C>T (p.Val842=)
NM_000069.3(CACNA1S):c.2581G>A (p.Gly861Ser)
NM_000069.3(CACNA1S):c.2689A>G (p.Arg897Gly)	rs1572039465
NM_000069.3(CACNA1S):c.2690G>C (p.Arg897Thr)	rs1287079817
NM_000069.3(CACNA1S):c.2691G>C (p.Arg897Ser)	rs80338779
NM_000069.3(CACNA1S):c.2839G>T (p.Val947Phe)
NM_000069.3(CACNA1S):c.2875del (p.Asp959fs)	rs1661088751
NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser)	rs80338782
NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=)	rs34515088
NM_000069.3(CACNA1S):c.3335G>A (p.Trp1112Ter)	rs2102573564
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)	rs28930068
NM_000069.3(CACNA1S):c.3971C>T (p.Ala1324Val)	rs777173963
NM_000069.3(CACNA1S):c.4443T>C (p.Gly1481=)
NM_000069.3(CACNA1S):c.4523A>G (p.Gln1508Arg)
NM_000069.3(CACNA1S):c.4543+2T>C	rs1572023336
NM_000069.3(CACNA1S):c.4669-6C>T
NM_000069.3(CACNA1S):c.4677G>A (p.Leu1559=)
NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr)	rs199989324
NM_000069.3(CACNA1S):c.5139C>T (p.Pro1713=)
NM_000069.3(CACNA1S):c.5392G>C (p.Gly1798Arg)
NM_000069.3(CACNA1S):c.5466A>G (p.Pro1822=)
NM_000069.3(CACNA1S):c.5507G>A (p.Arg1836Gln)	rs368214163
NM_000069.3(CACNA1S):c.744G>C (p.Thr248=)	rs373609219
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp)	rs35534614

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