Variants in gene CACNA1S with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status:		Submission 2 (likely benign) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 125

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HGVS	dbSNP	gnomAD frequency
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)	rs145910245	0.00349
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr)	rs139956524	0.00135
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg)	rs148870919	0.00053
NM_000069.3(CACNA1S):c.-4A>G	rs200408018	0.00050
NM_000069.3(CACNA1S):c.540T>C (p.Pro180=)	rs138245131	0.00032
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His)	rs140453525	0.00031
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)	rs141204958	0.00029
NM_000069.3(CACNA1S):c.4114-3C>T	rs182873269	0.00027
NM_000069.3(CACNA1S):c.4972C>T (p.Arg1658Cys)	rs147392278	0.00024
NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala)	rs200765341	0.00021
NM_000069.3(CACNA1S):c.3256-12T>A	rs374335683	0.00019
NM_000069.3(CACNA1S):c.3334T>G (p.Trp1112Gly)	rs151218760	0.00019
NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro)	rs576536458	0.00017
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.2099C>T (p.Thr700Met)	rs147112322	0.00016
NM_000069.3(CACNA1S):c.2490+5C>T	rs369813191	0.00016
NM_000069.3(CACNA1S):c.1903A>G (p.Met635Val)	rs201784750	0.00015
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His)	rs142102094	0.00014
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.3190G>A (p.Val1064Ile)	rs138837077	0.00011
NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp)	rs757433005	0.00011
NM_000069.3(CACNA1S):c.1325T>C (p.Val442Ala)	rs202217590	0.00010
NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met)	rs200334886	0.00010
NM_000069.3(CACNA1S):c.2658G>A (p.Glu886=)	rs140924492	0.00010
NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His)	rs747618077	0.00010
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr)	rs200434921	0.00010
NM_000069.3(CACNA1S):c.3664G>A (p.Val1222Ile)	rs202240111	0.00009
NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln)	rs372436488	0.00008
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.208G>A (p.Val70Met)	rs771706267	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.3761G>A (p.Arg1254Gln)	rs530655602	0.00006
NM_000069.3(CACNA1S):c.4414C>T (p.Arg1472Cys)	rs201257304	0.00006
NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu)	rs202120583	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.1352C>T (p.Ser451Leu)	rs35521793	0.00005
NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser)	rs139935847	0.00005
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.1492C>T (p.Arg498Cys)	rs532351874	0.00004
NM_000069.3(CACNA1S):c.2380C>T (p.Arg794Cys)	rs373328930	0.00004
NM_000069.3(CACNA1S):c.2453C>T (p.Ala818Val)	rs372668776	0.00004
NM_000069.3(CACNA1S):c.2632G>A (p.Val878Met)	rs202131129	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.4415G>A (p.Arg1472His)	rs201463541	0.00004
NM_000069.3(CACNA1S):c.454A>G (p.Met152Val)	rs369332959	0.00004
NM_000069.3(CACNA1S):c.4690G>A (p.Glu1564Lys)	rs368421264	0.00004
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)	rs200848930	0.00004
NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe)	rs747238231	0.00004
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr)	rs527702358	0.00004
NM_000069.3(CACNA1S):c.619G>A (p.Val207Ile)	rs767571919	0.00004
NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp)	rs186538122	0.00004
NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His)	rs760674518	0.00003
NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His)	rs774884290	0.00003
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu)	rs749856222	0.00003
NM_000069.3(CACNA1S):c.409G>A (p.Val137Met)	rs753195502	0.00003
NM_000069.3(CACNA1S):c.482T>C (p.Val161Ala)	rs141521945	0.00003
NM_000069.3(CACNA1S):c.670A>G (p.Lys224Glu)	rs374763528	0.00003
NM_000069.3(CACNA1S):c.1466G>A (p.Arg489His)	rs553739117	0.00002
NM_000069.3(CACNA1S):c.1519G>A (p.Gly507Ser)	rs554729466	0.00002
NM_000069.3(CACNA1S):c.1531A>C (p.Ile511Leu)	rs748021245	0.00002
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn)	rs373525085	0.00002
NM_000069.3(CACNA1S):c.2407A>G (p.Asn803Asp)	rs561979536	0.00002
NM_000069.3(CACNA1S):c.2594G>A (p.Arg865His)	rs545411173	0.00002
NM_000069.3(CACNA1S):c.2853+18C>T	rs768391679	0.00002
NM_000069.3(CACNA1S):c.3053+19C>G	rs372276351	0.00002
NM_000069.3(CACNA1S):c.3530A>T (p.Tyr1177Phe)	rs774511818	0.00002
NM_000069.3(CACNA1S):c.4264G>A (p.Val1422Met)	rs1224786667	0.00002
NM_000069.3(CACNA1S):c.4501A>G (p.Thr1501Ala)	rs373248127	0.00002
NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile)	rs138265497	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.835G>A (p.Gly279Ser)	rs375704313	0.00002
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.2512G>A (p.Gly838Arg)	rs1356510559	0.00001
NM_000069.3(CACNA1S):c.3166A>G (p.Met1056Val)	rs757165791	0.00001
NM_000069.3(CACNA1S):c.3256-9G>A	rs1294455750	0.00001
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr)	rs200366112	0.00001
NM_000069.3(CACNA1S):c.3823G>A (p.Val1275Ile)	rs760441649	0.00001
NM_000069.3(CACNA1S):c.3953+4C>T	rs763936268	0.00001
NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln)	rs756438139	0.00001
NM_000069.3(CACNA1S):c.4462G>A (p.Glu1488Lys)	rs533353353	0.00001
NM_000069.3(CACNA1S):c.4598T>C (p.Phe1533Ser)	rs772750589	0.00001
NM_000069.3(CACNA1S):c.531G>A (p.Ser177=)	rs750087191	0.00001
NM_000069.3(CACNA1S):c.695-5T>A	rs1487979476	0.00001
NM_000069.3(CACNA1S):c.826G>A (p.Asp276Asn)	rs757755172	0.00001
NM_000069.3(CACNA1S):c.900+9G>A	rs1454687459	0.00001
NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn)	rs143202536
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.164C>T (p.Thr55Met)	rs549107212
NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr)
NM_000069.3(CACNA1S):c.1781G>T (p.Arg594Leu)	rs762032797
NM_000069.3(CACNA1S):c.1884C>T (p.Gly628=)	rs200743095
NM_000069.3(CACNA1S):c.1889C>T (p.Pro630Leu)
NM_000069.3(CACNA1S):c.1904T>A (p.Met635Lys)	rs144590408
NM_000069.3(CACNA1S):c.2167G>A (p.Asp723Asn)
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.2920G>A (p.Val974Met)	rs757840865
NM_000069.3(CACNA1S):c.3083C>T (p.Ala1028Val)	rs751604155
NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys)
NM_000069.3(CACNA1S):c.3256-13G>T
NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser)	rs774300377
NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr)	rs199989324
NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln)	rs201310235
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.5207C>T (p.Ala1736Val)
NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser)	rs200434921
NM_000069.3(CACNA1S):c.5507G>A (p.Arg1836Gln)	rs368214163
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val)	rs35534614

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