ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance for not specified

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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234 0.00039
NM_001127222.2(CACNA1A):c.7291G>A (p.Ala2431Thr) rs1052515747 0.00024
NM_001127222.2(CACNA1A):c.5987C>T (p.Thr1996Met) rs778274864 0.00015
NM_001127222.2(CACNA1A):c.5155G>A (p.Asp1719Asn) rs368257155 0.00010
NM_001127222.2(CACNA1A):c.3166C>T (p.Arg1056Cys) rs187393245 0.00009
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001127222.2(CACNA1A):c.6922G>A (p.Gly2308Ser) rs758924907 0.00006
NM_001127222.2(CACNA1A):c.1199-9C>T rs529977616 0.00005
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln) rs745775887 0.00004
NM_001127222.2(CACNA1A):c.1348T>C (p.Ser450Pro) rs1308599413 0.00003
NM_001127222.2(CACNA1A):c.35A>G (p.Tyr12Cys) rs994265107 0.00003
NM_001127222.2(CACNA1A):c.6193G>A (p.Val2065Met) rs776203885 0.00003
NM_001127222.2(CACNA1A):c.6644A>C (p.His2215Pro) rs1233829101 0.00003
NM_001127222.2(CACNA1A):c.2483A>G (p.Gln828Arg) rs753196787 0.00002
NM_001127222.2(CACNA1A):c.2890C>T (p.Pro964Ser) rs1383144531 0.00002
NM_001127222.2(CACNA1A):c.3436G>A (p.Val1146Ile) rs376365775 0.00002
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr) rs374063403 0.00002
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130 0.00002
NM_001127222.2(CACNA1A):c.7052G>A (p.Gly2351Glu) rs1442777428 0.00002
NM_001127222.2(CACNA1A):c.1141C>T (p.Arg381Trp) rs773593740 0.00001
NM_001127222.2(CACNA1A):c.1189T>G (p.Ser397Ala) rs745753973 0.00001
NM_001127222.2(CACNA1A):c.1393T>G (p.Ser465Ala) rs1195950626 0.00001
NM_001127222.2(CACNA1A):c.1782G>A (p.Lys594=) rs756972061 0.00001
NM_001127222.2(CACNA1A):c.2265C>T (p.Asn755=) rs1382705855 0.00001
NM_001127222.2(CACNA1A):c.2818A>G (p.Arg940Gly) rs778220824 0.00001
NM_001127222.2(CACNA1A):c.2833G>A (p.Gly945Arg) rs527593196 0.00001
NM_001127222.2(CACNA1A):c.3383C>T (p.Pro1128Leu) rs754208553 0.00001
NM_001127222.2(CACNA1A):c.3683C>T (p.Thr1228Met) rs1057518532 0.00001
NM_001127222.2(CACNA1A):c.4516G>T (p.Val1506Leu) rs1322080885 0.00001
NM_001127222.2(CACNA1A):c.4807G>A (p.Val1603Ile) rs943715197 0.00001
NM_001127222.2(CACNA1A):c.536C>T (p.Thr179Met) rs773461333 0.00001
NM_001127222.2(CACNA1A):c.5734G>A (p.Gly1912Arg) rs966699696 0.00001
NM_001127222.2(CACNA1A):c.578C>T (p.Thr193Met) rs1365721398 0.00001
NM_001127222.2(CACNA1A):c.6211G>A (p.Gly2071Ser) rs370514102 0.00001
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu) rs750077868 0.00001
NC_000019.10:g.13599780G>A rs1408235628
NM_001127222.2(CACNA1A):c.*544C>A
NM_001127222.2(CACNA1A):c.1267A>T (p.Thr423Ser) rs1555766588
NM_001127222.2(CACNA1A):c.2088G>A (p.Leu696=) rs908321451
NM_001127222.2(CACNA1A):c.2270C>G (p.Ser757Cys)
NM_001127222.2(CACNA1A):c.2280-5T>A rs1555756483
NM_001127222.2(CACNA1A):c.2536G>A (p.Asp846Asn)
NM_001127222.2(CACNA1A):c.2548G>A (p.Gly850Ser)
NM_001127222.2(CACNA1A):c.2840C>T (p.Pro947Leu)
NM_001127222.2(CACNA1A):c.2857G>A (p.Gly953Arg) rs1057518292
NM_001127222.2(CACNA1A):c.2960G>C (p.Arg987Pro) rs955869211
NM_001127222.2(CACNA1A):c.3129C>A (p.Asn1043Lys) rs1187232740
NM_001127222.2(CACNA1A):c.3179C>G (p.Pro1060Arg) rs763400188
NM_001127222.2(CACNA1A):c.3515del (p.Pro1172fs) rs1236800371
NM_001127222.2(CACNA1A):c.3553+3G>T rs1057518586
NM_001127222.2(CACNA1A):c.3584C>T (p.Pro1195Leu) rs1568493631
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del) rs750826355
NM_001127222.2(CACNA1A):c.5053G>A (p.Val1685Met) rs1442400930
NM_001127222.2(CACNA1A):c.5057A>G (p.Gln1686Arg) rs2055848608
NM_001127222.2(CACNA1A):c.5098A>G (p.Met1700Val)
NM_001127222.2(CACNA1A):c.5213T>C (p.Phe1738Ser) rs2144646654
NM_001127222.2(CACNA1A):c.5250-3C>G
NM_001127222.2(CACNA1A):c.5529-1216C>T rs1057518533
NM_001127222.2(CACNA1A):c.571_578delinsGAACT (p.Leu191_Thr193delinsGluLeu) rs1064795173
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001127222.2(CACNA1A):c.6056C>T (p.Ala2019Val)
NM_001127222.2(CACNA1A):c.6189+4C>A rs2054846468
NM_001127222.2(CACNA1A):c.6210G>A (p.Met2070Ile) rs1555731738
NM_001127222.2(CACNA1A):c.632-8C>G rs762951690
NM_001127222.2(CACNA1A):c.6322C>T (p.Arg2108Cys)
NM_001127222.2(CACNA1A):c.643G>A (p.Val215Ile) rs1555774867
NM_001127222.2(CACNA1A):c.6514G>T (p.Asp2172Tyr) rs370289732
NM_001127222.2(CACNA1A):c.6542T>C (p.Leu2181Pro) rs2144502972
NM_001127222.2(CACNA1A):c.6657delinsCCACCAC (p.His2218_His2219dup) rs1057518615
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.6658_6669del (p.Pro2220_Pro2223del) rs2144501445
NM_001127222.2(CACNA1A):c.6680G>T (p.Arg2227Leu) rs1064793075
NM_001127222.2(CACNA1A):c.7206G>A (p.Pro2402=)
NM_001127222.2(CACNA1A):c.7419C>T (p.Pro2473=)

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