ClinVar Miner

List of variants in gene CACNA1A reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_001127222.2(CACNA1A):c.1698C>T (p.Ile566=) rs190603219 0.00314
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) rs374664760 0.00262
NM_001127222.2(CACNA1A):c.1345+7C>T rs192536793 0.00213
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053 0.00188
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786 0.00153
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894 0.00131
NM_001127222.2(CACNA1A):c.7261C>G (p.Pro2421Ala) rs544924244 0.00130
NM_001127222.2(CACNA1A):c.7262C>T (p.Pro2421Leu) rs573961089 0.00130
NM_001127222.2(CACNA1A):c.1914-4G>A rs191026552 0.00108
NM_001127222.2(CACNA1A):c.6561C>T (p.Ser2187=) rs371116746 0.00064
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) rs374749004 0.00057
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) rs199793367 0.00057
NM_001127222.2(CACNA1A):c.2844C>G (p.Arg948=) rs559862641 0.00036
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) rs16010 0.00030
NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=) rs372812865 0.00026
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val) rs199512932 0.00024
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=) rs572036869 0.00023
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014 0.00022
NM_001127222.2(CACNA1A):c.7189G>A (p.Val2397Met) rs768129470 0.00020
NM_001127222.2(CACNA1A):c.1995G>A (p.Thr665=) rs376641545 0.00019
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=) rs749357610 0.00019
NM_001127222.2(CACNA1A):c.7050C>T (p.Ala2350=) rs932173199 0.00017
NM_001127222.2(CACNA1A):c.7327G>A (p.Ala2443Thr) rs533884784 0.00017
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) rs368033271 0.00016
NM_001127222.2(CACNA1A):c.2907G>A (p.Pro969=) rs772557121 0.00016
NM_001127222.2(CACNA1A):c.3384G>A (p.Pro1128=) rs370541345 0.00016
NM_001127222.2(CACNA1A):c.4410C>T (p.Asp1470=) rs374555263 0.00016
NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=) rs745609731 0.00014
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg) rs190551509 0.00013
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) rs201236364 0.00012
NM_001127222.2(CACNA1A):c.6584G>A (p.Arg2195Gln) rs373192655 0.00012
NC_000019.10:g.13599806G>A rs970127068 0.00011
NM_001127222.2(CACNA1A):c.6573G>A (p.Pro2191=) rs554430594 0.00011
NM_001127222.2(CACNA1A):c.2046C>T (p.Gly682=) rs535077726 0.00009
NM_001127222.2(CACNA1A):c.3774C>T (p.Ile1258=) rs759641758 0.00009
NM_001127222.2(CACNA1A):c.2172+9G>A rs368353124 0.00007
NM_001127222.2(CACNA1A):c.4338G>A (p.Leu1446=) rs371952826 0.00007
NM_001127222.2(CACNA1A):c.2853G>A (p.Ala951=) rs761522418 0.00006
NM_001127222.2(CACNA1A):c.3489C>T (p.Pro1163=) rs771567638 0.00006
NM_001127222.2(CACNA1A):c.546G>A (p.Leu182=) rs368347143 0.00006
NM_001127222.2(CACNA1A):c.7233G>C (p.Arg2411=) rs1015330748 0.00006
NM_001127222.2(CACNA1A):c.105C>T (p.Gly35=) rs745876675 0.00005
NM_001127222.2(CACNA1A):c.561G>A (p.Thr187=) rs777316026 0.00005
NM_001127222.2(CACNA1A):c.6663G>A (p.Pro2221=) rs1447103387 0.00005
NM_001127222.2(CACNA1A):c.2105-8A>G rs763822129 0.00004
NM_001127222.2(CACNA1A):c.3621C>T (p.Asp1207=) rs368211900 0.00004
NM_001127222.2(CACNA1A):c.2028G>A (p.Gly676=) rs369129616 0.00003
NM_001127222.2(CACNA1A):c.3483G>A (p.Arg1161=) rs772768681 0.00003
NM_001127222.2(CACNA1A):c.4362C>T (p.Thr1454=) rs190264873 0.00003
NM_001127222.2(CACNA1A):c.5421C>T (p.Ala1807=) rs372359926 0.00003
NM_001127222.2(CACNA1A):c.549G>A (p.Ala183=) rs16004 0.00003
NM_001127222.2(CACNA1A):c.5580G>A (p.Pro1860=) rs144137960 0.00003
NM_001127222.2(CACNA1A):c.642C>T (p.Val214=) rs1336839525 0.00003
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=) rs373678395 0.00002
NM_001127222.2(CACNA1A):c.3264C>T (p.Ala1088=) rs916089734 0.00002
NM_001127222.2(CACNA1A):c.4608C>T (p.Phe1536=) rs760679421 0.00002
NM_001127222.2(CACNA1A):c.6417G>A (p.Ser2139=) rs1174598861 0.00002
NM_001127222.2(CACNA1A):c.1809C>T (p.Val603=) rs560241650 0.00001
NM_001127222.2(CACNA1A):c.1875C>T (p.Val625=) rs774629539 0.00001
NM_001127222.2(CACNA1A):c.1899A>G (p.Gln633=) rs769887736 0.00001
NM_001127222.2(CACNA1A):c.2979C>T (p.Gly993=) rs1347561457 0.00001
NM_001127222.2(CACNA1A):c.318C>T (p.Ala106=) rs554701306 0.00001
NM_001127222.2(CACNA1A):c.3450C>T (p.Ser1150=) rs751700486 0.00001
NM_001127222.2(CACNA1A):c.5094C>T (p.Ile1698=) rs201844207 0.00001
NM_001127222.2(CACNA1A):c.5154C>T (p.Ile1718=) rs751799133 0.00001
NM_001127222.2(CACNA1A):c.5256C>T (p.Ala1752=) rs753902560 0.00001
NM_001127222.2(CACNA1A):c.5400+8T>C rs772508313 0.00001
NM_001127222.2(CACNA1A):c.6060C>T (p.His2020=) rs1282402038 0.00001
NM_001127222.2(CACNA1A):c.6211G>A (p.Gly2071Ser) rs370514102 0.00001
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=) rs760994682 0.00001
NM_001127222.2(CACNA1A):c.7488A>G (p.Glu2496=) rs745440661 0.00001
NM_001127222.2(CACNA1A):c.864G>A (p.Gln288=) rs770448965 0.00001
NC_000019.10:g.13198071A>T
NC_000019.10:g.13599842C>A
NC_000019.10:g.13599844G>A
NC_000019.10:g.13599907C>T
NM_001127222.2(CACNA1A):c.1923C>T (p.Phe641=)
NM_001127222.2(CACNA1A):c.2451G>A (p.Thr817=) rs201998077
NM_001127222.2(CACNA1A):c.2580A>G (p.Lys860=)
NM_001127222.2(CACNA1A):c.2715C>T (p.Ala905=)
NM_001127222.2(CACNA1A):c.2751G>A (p.Glu917=)
NM_001127222.2(CACNA1A):c.2968GAGGGC[2] (p.990EG[2]) rs764399373
NM_001127222.2(CACNA1A):c.3051G>C (p.Ala1017=)
NM_001127222.2(CACNA1A):c.3084G>A (p.Arg1028=)
NM_001127222.2(CACNA1A):c.3189G>A (p.Glu1063=) rs2057413345
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys) rs201311000
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del) rs772989979
NM_001127222.2(CACNA1A):c.3807C>T (p.Asn1269=) rs557721660
NM_001127222.2(CACNA1A):c.384G>A (p.Pro128=)
NM_001127222.2(CACNA1A):c.4290G>T (p.Ala1430=) rs555959123
NM_001127222.2(CACNA1A):c.4872T>C (p.Tyr1624=)
NM_001127222.2(CACNA1A):c.4878C>T (p.Arg1626=)
NM_001127222.2(CACNA1A):c.5295C>T (p.Leu1765=)
NM_001127222.2(CACNA1A):c.5649C>T (p.Pro1883=)
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=) rs757291476
NM_001127222.2(CACNA1A):c.6031C>T (p.Leu2011=)
NM_001127222.2(CACNA1A):c.60C>T (p.Ala20=)
NM_001127222.2(CACNA1A):c.6327G>A (p.Gly2109=)
NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr) rs17846928
NM_001127222.2(CACNA1A):c.6528C>T (p.Gly2176=) rs2054695798
NM_001127222.2(CACNA1A):c.6630CCA[8] (p.His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6647_6658del (p.His2216_His2219del) rs770368215
NM_001127222.2(CACNA1A):c.6660C>A (p.Pro2220=) rs771726163
NM_001127222.2(CACNA1A):c.6663G>C (p.Pro2221=)
NM_001127222.2(CACNA1A):c.672C>T (p.Ile224=) rs771429351
NM_001127222.2(CACNA1A):c.6885A>C (p.Pro2295=)
NM_001127222.2(CACNA1A):c.6894C>T (p.Ser2298=)
NM_001127222.2(CACNA1A):c.6981G>A (p.Val2327=)
NM_001127222.2(CACNA1A):c.7194C>G (p.Ser2398=) rs774776009
NM_001127222.2(CACNA1A):c.7203C>T (p.Pro2401=) rs1218506473
NM_001127222.2(CACNA1A):c.7242C>T (p.Asp2414=)
NM_001127222.2(CACNA1A):c.7254C>T (p.Ala2418=)
NM_001127222.2(CACNA1A):c.7263G>A (p.Pro2421=)
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) rs775428832
NM_001127222.2(CACNA1A):c.7275C>T (p.Gly2425=)
NM_001127222.2(CACNA1A):c.72C>T (p.Val24=) rs773531250
NM_001127222.2(CACNA1A):c.7344C>G (p.Thr2448=) rs770109102
NM_001127222.2(CACNA1A):c.7440C>G (p.His2480Gln) rs539546830
NM_001127222.2(CACNA1A):c.7458C>A (p.Arg2486=)
NM_001127222.2(CACNA1A):c.7491C>T (p.Pro2497=) rs1368524598
NM_001127222.2(CACNA1A):c.849T>C (p.Asn283=)

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