ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
Download table as spreadsheet
HGVS dbSNP
NM_000068.4(CACNA1A):c.6655C>T (p.His2219Tyr) rs1555730624
NM_001127222.2(CACNA1A):c.1030A>C (p.Ile344Leu)
NM_001127222.2(CACNA1A):c.105C>T (p.Gly35=) rs745876675
NM_001127222.2(CACNA1A):c.1060C>G (p.Leu354Val) rs1555767914
NM_001127222.2(CACNA1A):c.1346-6T>C
NM_001127222.2(CACNA1A):c.1369A>G (p.Ile457Val)
NM_001127222.2(CACNA1A):c.1373A>G (p.Lys458Arg)
NM_001127222.2(CACNA1A):c.1438C>T (p.Arg480Cys)
NM_001127222.2(CACNA1A):c.1465T>C (p.Tyr489His) rs1568528172
NM_001127222.2(CACNA1A):c.1690G>A (p.Glu564Lys) rs1057519099
NM_001127222.2(CACNA1A):c.1739T>A (p.Val580Glu) rs1064797233
NM_001127222.2(CACNA1A):c.1809C>T (p.Val603=) rs560241650
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile) rs756562814
NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile) rs1346036017
NM_001127222.2(CACNA1A):c.2320T>C (p.Trp774Arg) rs1568509826
NM_001127222.2(CACNA1A):c.2495_2497ACA[2] (p.Asn834del) rs750962335
NM_001127222.2(CACNA1A):c.2521G>T (p.Ala841Ser) rs1057522204
NM_001127222.2(CACNA1A):c.2582_2599del (p.Gln861_Asp866del) rs767951499
NM_001127222.2(CACNA1A):c.2584G>A (p.Ala862Thr) rs1283974516
NM_001127222.2(CACNA1A):c.2606G>C (p.Arg869Pro)
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242
NM_001127222.2(CACNA1A):c.2982_2987dup (p.Gly995_Pro996dup) rs995883431
NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser) rs775079932
NM_001127222.2(CACNA1A):c.3236C>A (p.Ala1079Asp) rs1064797232
NM_001127222.2(CACNA1A):c.3247G>C (p.Gly1083Arg)
NM_001127222.2(CACNA1A):c.3483G>A (p.Arg1161=) rs772768681
NM_001127222.2(CACNA1A):c.3497C>T (p.Thr1166Ile)
NM_001127222.2(CACNA1A):c.3518C>G (p.Ala1173Gly)
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile) rs373224251
NM_001127222.2(CACNA1A):c.3622G>A (p.Asp1208Asn) rs750231498
NM_001127222.2(CACNA1A):c.3891C>T (p.Asp1297=) rs1555749519
NM_001127222.2(CACNA1A):c.41_55dup (p.Gly14_Gly18dup) rs1057519100
NM_001127222.2(CACNA1A):c.4297C>T (p.Arg1433Trp)
NM_001127222.2(CACNA1A):c.4556A>G (p.Lys1519Arg) rs752888622
NM_001127222.2(CACNA1A):c.4764G>A (p.Gly1588=) rs1294804448
NM_001127222.2(CACNA1A):c.4806C>T (p.Ile1602=) rs372240227
NM_001127222.2(CACNA1A):c.5155G>A (p.Asp1719Asn) rs368257155
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=) rs758409135
NM_001127222.2(CACNA1A):c.5259C>T (p.Thr1753=) rs376684786
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met) rs1057521920
NM_001127222.2(CACNA1A):c.5341T>C (p.Cys1781Arg) rs1600130730
NM_001127222.2(CACNA1A):c.5468T>C (p.Leu1823Pro) rs1057521706
NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met) rs771104002
NM_001127222.2(CACNA1A):c.5940+4C>T rs749339070
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser) rs751947412
NM_001127222.2(CACNA1A):c.6015C>T (p.Ala2005=) rs369675855
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694
NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu) rs751515136
NM_001127222.2(CACNA1A):c.6235G>A (p.Glu2079Lys) rs752513542
NM_001127222.2(CACNA1A):c.6263G>C (p.Gly2088Ala)
NM_001127222.2(CACNA1A):c.631+5G>A rs786200963
NM_001127222.2(CACNA1A):c.6317G>A (p.Arg2106Gln)
NM_001127222.2(CACNA1A):c.6346T>G (p.Ser2116Ala) rs576057388
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235
NM_001127222.2(CACNA1A):c.6448C>T (p.Arg2150Trp) rs756780624
NM_001127222.2(CACNA1A):c.6452_6463del (p.His2151_Arg2154del) rs1469809752
NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His) rs572722130
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130
NM_001127222.2(CACNA1A):c.6466C>G (p.Arg2156Gly) rs554393704
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp) rs1032588483
NM_001127222.2(CACNA1A):c.6641A>G (p.His2214Arg) rs1600079735
NM_001127222.2(CACNA1A):c.6669C>T (p.Pro2223=) rs2304094
NM_001127222.2(CACNA1A):c.6715C>T (p.Arg2239Trp) rs759576380
NM_001127222.2(CACNA1A):c.6740G>A (p.Arg2247His) rs1219651327
NM_001127222.2(CACNA1A):c.6754G>A (p.Gly2252Ser) rs1433873178
NM_001127222.2(CACNA1A):c.692T>G (p.Leu231Arg) rs1599292506
NM_001127222.2(CACNA1A):c.7124C>A (p.Ala2375Asp)
NM_001127222.2(CACNA1A):c.716T>C (p.Ile239Thr) rs1599292445
NM_001127222.2(CACNA1A):c.7189G>A (p.Val2397Met) rs768129470
NM_001127222.2(CACNA1A):c.7235G>T (p.Gly2412Val)
NM_001127222.2(CACNA1A):c.7306G>A (p.Ala2436Thr) rs754573556
NM_001127222.2(CACNA1A):c.7317dup (p.Val2440fs)
NM_001127222.2(CACNA1A):c.7400G>C (p.Arg2467Pro)
NM_001127222.2(CACNA1A):c.7488A>G (p.Glu2496=) rs745440661
NM_001127222.2(CACNA1A):c.920C>T (p.Ala307Val) rs1599276891
NM_001127222.2(CACNA1A):c.924G>A (p.Val308=) rs754935637
NM_001127222.2(CACNA1A):c.985G>C (p.Asp329His)

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.