ClinVar Miner

List of variants in gene CACNA1S reported as uncertain significance by Invitae

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Total variants: 100
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HGVS dbSNP
NM_000069.2(CACNA1S):c.1060C>T (p.Arg354Trp)
NM_000069.2(CACNA1S):c.1091G>A (p.Arg364Gln) rs763360081
NM_000069.2(CACNA1S):c.1166A>T (p.Asp389Val) rs148770452
NM_000069.2(CACNA1S):c.1348G>A (p.Ala450Thr) rs150218077
NM_000069.2(CACNA1S):c.1352C>T (p.Ser451Leu) rs35521793
NM_000069.2(CACNA1S):c.1370C>T (p.Pro457Leu) rs1450678337
NM_000069.2(CACNA1S):c.1382C>A (p.Thr461Asn) rs143202536
NM_000069.2(CACNA1S):c.1493G>A (p.Arg498His) rs150590855
NM_000069.2(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.2(CACNA1S):c.1557G>A (p.Met519Ile) rs200066766
NM_000069.2(CACNA1S):c.1558A>C (p.Thr520Pro)
NM_000069.2(CACNA1S):c.1583G>T (p.Arg528Leu) rs80338777
NM_000069.2(CACNA1S):c.1745G>C (p.Gly582Ala) rs377459546
NM_000069.2(CACNA1S):c.1777C>A (p.Arg593=)
NM_000069.2(CACNA1S):c.1777C>T (p.Arg593Trp)
NM_000069.2(CACNA1S):c.1781G>A (p.Arg594His) rs762032797
NM_000069.2(CACNA1S):c.1827+6C>T
NM_000069.2(CACNA1S):c.1852T>G (p.Ser618Ala) rs149195094
NM_000069.2(CACNA1S):c.1912T>A (p.Cys638Ser)
NM_000069.2(CACNA1S):c.1945A>C (p.Asn649His) rs760246258
NM_000069.2(CACNA1S):c.1981G>A (p.Val661Met) rs764736462
NM_000069.2(CACNA1S):c.1996G>A (p.Glu666Lys) rs377082783
NM_000069.2(CACNA1S):c.200C>T (p.Ala67Val) rs1553254116
NM_000069.2(CACNA1S):c.2048G>A (p.Arg683His) rs141031133
NM_000069.2(CACNA1S):c.2099C>T (p.Thr700Met) rs147112322
NM_000069.2(CACNA1S):c.2103G>A (p.Met701Ile) rs1553251197
NM_000069.2(CACNA1S):c.2104G>T (p.Ala702Ser)
NM_000069.2(CACNA1S):c.2361-3C>T
NM_000069.2(CACNA1S):c.2467C>T (p.Arg823Trp) rs199758244
NM_000069.2(CACNA1S):c.2476T>A (p.Ser826Thr)
NM_000069.2(CACNA1S):c.2507A>G (p.Asp836Gly)
NM_000069.2(CACNA1S):c.253G>A (p.Gly85Ser)
NM_000069.2(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831
NM_000069.2(CACNA1S):c.2690G>A (p.Arg897Lys) rs1287079817
NM_000069.2(CACNA1S):c.2729G>A (p.Arg910Lys)
NM_000069.2(CACNA1S):c.2753T>C (p.Val918Ala)
NM_000069.2(CACNA1S):c.2767G>A (p.Val923Met) rs571902899
NM_000069.2(CACNA1S):c.2767G>C (p.Val923Leu) rs571902899
NM_000069.2(CACNA1S):c.2920G>A (p.Val974Met) rs757840865
NM_000069.2(CACNA1S):c.2921T>A (p.Val974Glu)
NM_000069.2(CACNA1S):c.3013A>T (p.Met1005Leu)
NM_000069.2(CACNA1S):c.3091G>A (p.Val1031Met)
NM_000069.2(CACNA1S):c.3111C>A (p.Asn1037Lys) rs143836984
NM_000069.2(CACNA1S):c.3185G>A (p.Gly1062Asp) rs1553249998
NM_000069.2(CACNA1S):c.3190G>A (p.Val1064Ile)
NM_000069.2(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782
NM_000069.2(CACNA1S):c.3287G>A (p.Arg1096His) rs142102094
NM_000069.2(CACNA1S):c.3322C>G (p.Gln1108Glu) rs765685405
NM_000069.2(CACNA1S):c.3337T>C (p.Tyr1113His) rs1553249924
NM_000069.2(CACNA1S):c.3398T>C (p.Ile1133Thr)
NM_000069.2(CACNA1S):c.3406G>A (p.Gly1136Ser)
NM_000069.2(CACNA1S):c.3414+3A>T rs892742196
NM_000069.2(CACNA1S):c.3437T>A (p.Met1146Lys)
NM_000069.2(CACNA1S):c.3442C>T (p.His1148Tyr) rs1553249775
NM_000069.2(CACNA1S):c.3530A>T (p.Tyr1177Phe)
NM_000069.2(CACNA1S):c.3584T>C (p.Ile1195Thr) rs200366112
NM_000069.2(CACNA1S):c.3609+6T>C
NM_000069.2(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919
NM_000069.2(CACNA1S):c.3752_3754delAAG (p.Glu1251del) rs1283443722
NM_000069.2(CACNA1S):c.3754G>A (p.Gly1252Arg)
NM_000069.2(CACNA1S):c.3760C>G (p.Arg1254Gly)
NM_000069.2(CACNA1S):c.3802C>T (p.Pro1268Ser)
NM_000069.2(CACNA1S):c.398+3G>A rs764710968
NM_000069.2(CACNA1S):c.3998G>A (p.Ser1333Asn)
NM_000069.2(CACNA1S):c.404T>C (p.Phe135Ser) rs1553252778
NM_000069.2(CACNA1S):c.4051A>G (p.Thr1351Ala)
NM_000069.2(CACNA1S):c.4114-5T>A rs1421023094
NM_000069.2(CACNA1S):c.4145A>G (p.Asp1382Gly) rs1007920084
NM_000069.2(CACNA1S):c.4242G>A (p.Lys1414=) rs769933784
NM_000069.2(CACNA1S):c.4309A>C (p.Lys1437Gln) rs752196801
NM_000069.2(CACNA1S):c.4340G>A (p.Arg1447Gln) rs377474103
NM_000069.2(CACNA1S):c.4441+3G>A rs886045795
NM_000069.2(CACNA1S):c.4490T>C (p.Ile1497Thr)
NM_000069.2(CACNA1S):c.454A>G (p.Met152Val)
NM_000069.2(CACNA1S):c.4690G>A (p.Glu1564Lys)
NM_000069.2(CACNA1S):c.4778T>C (p.Met1593Thr)
NM_000069.2(CACNA1S):c.4795C>T (p.Arg1599Trp) rs763695518
NM_000069.2(CACNA1S):c.4861G>A (p.Val1621Ile) rs756066219
NM_000069.2(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930
NM_000069.2(CACNA1S):c.4916A>T (p.Glu1639Val) rs146885451
NM_000069.2(CACNA1S):c.4972_4973delCGinsTA (p.Arg1658Tyr) rs1553248123
NM_000069.2(CACNA1S):c.4984A>T (p.Asn1662Tyr)
NM_000069.2(CACNA1S):c.503G>A (p.Arg168Gln)
NM_000069.2(CACNA1S):c.5267G>A (p.Ser1756Asn)
NM_000069.2(CACNA1S):c.5309G>A (p.Arg1770Lys)
NM_000069.2(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958
NM_000069.2(CACNA1S):c.5315C>G (p.Thr1772Ser) rs751225635
NM_000069.2(CACNA1S):c.5550C>A (p.Asn1850Lys) rs141556780
NM_000069.2(CACNA1S):c.5612C>T (p.Pro1871Leu) rs1553247246
NM_000069.2(CACNA1S):c.598G>A (p.Ala200Thr) rs527702358
NM_000069.2(CACNA1S):c.619G>A (p.Val207Ile) rs767571919
NM_000069.2(CACNA1S):c.695-5T>A rs1487979476
NM_000069.2(CACNA1S):c.743C>T (p.Thr248Met) rs200665694
NM_000069.2(CACNA1S):c.773G>T (p.Gly258Val) rs35534614
NM_000069.2(CACNA1S):c.865A>G (p.Ile289Val) rs139920212
NM_000069.2(CACNA1S):c.898T>C (p.Trp300Arg) rs370325121
NM_000069.2(CACNA1S):c.93G>C (p.Leu31Phe) rs556751671
NM_000069.2(CACNA1S):c.947C>G (p.Thr316Ser)
NM_000069.2(CACNA1S):c.982C>A (p.Leu328Met)
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819

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