ClinVar Miner

List of variants in gene combination CACNA1A, LOC126862866

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.1082+182G>A rs74183012 0.07483
NM_001127222.2(CACNA1A):c.1082+308T>C rs75478551 0.03785
NM_001127222.2(CACNA1A):c.979-40C>G rs114479295 0.03712
NM_001127222.2(CACNA1A):c.1082+47T>C rs10410724 0.02860
NM_001127222.2(CACNA1A):c.1082+186C>A rs116966283 0.01344
NM_001127222.2(CACNA1A):c.1082+300C>T rs185686627 0.00698
NM_001127222.2(CACNA1A):c.979-10C>A rs374647321 0.00008
NM_001127222.2(CACNA1A):c.1080A>C (p.Ser360=) rs920116858 0.00004
NM_001127222.2(CACNA1A):c.984C>T (p.Asn328=) rs772301380 0.00004
NM_001127222.2(CACNA1A):c.1038C>T (p.Ile346=) rs527246699 0.00002
NM_001127222.2(CACNA1A):c.1071T>C (p.Gly357=) rs1240852774 0.00001
NM_001127222.2(CACNA1A):c.979-7C>T rs1375150525 0.00001
NC_000019.10:g.(13335910_13359606)_(13359799_13371687)del
NC_000019.10:g.(13335910_13359606)_(13359799_13371687)dup
NM_001127222.2(CACNA1A):c.1000A>G (p.Thr334Ala)
NM_001127222.2(CACNA1A):c.1004G>A (p.Trp335Ter)
NM_001127222.2(CACNA1A):c.1005del (p.Thr334_Trp335insTer)
NM_001127222.2(CACNA1A):c.1014G>A (p.Leu338=)
NM_001127222.2(CACNA1A):c.1016A>G (p.Tyr339Cys)
NM_001127222.2(CACNA1A):c.1025C>T (p.Pro342Leu)
NM_001127222.2(CACNA1A):c.1026C>G (p.Pro342=) rs1412349338
NM_001127222.2(CACNA1A):c.1027C>T (p.Leu343Phe) rs2145140491
NM_001127222.2(CACNA1A):c.1030A>C (p.Ile344Leu) rs2058556893
NM_001127222.2(CACNA1A):c.1030ATC[2] (p.Ile346del) rs2058556589
NM_001127222.2(CACNA1A):c.1035C>A (p.Ile345=) rs779827819
NM_001127222.2(CACNA1A):c.1035C>G (p.Ile345Met) rs779827819
NM_001127222.2(CACNA1A):c.1037_1082+113del
NM_001127222.2(CACNA1A):c.1039G>A (p.Gly347Ser) rs977960069
NM_001127222.2(CACNA1A):c.1044C>T (p.Ser348=)
NM_001127222.2(CACNA1A):c.1054C>T (p.Leu352=)
NM_001127222.2(CACNA1A):c.1059C>A (p.Asn353Lys) rs1568546593
NM_001127222.2(CACNA1A):c.1059C>G (p.Asn353Lys) rs1568546593
NM_001127222.2(CACNA1A):c.1060C>G (p.Leu354Val) rs1555767914
NM_001127222.2(CACNA1A):c.1060C>T (p.Leu354Phe) rs1555767914
NM_001127222.2(CACNA1A):c.1061T>A (p.Leu354His) rs2145140311
NM_001127222.2(CACNA1A):c.1067T>C (p.Leu356Pro) rs1568546568
NM_001127222.2(CACNA1A):c.1072G>A (p.Val358Met) rs2145140145
NM_001127222.2(CACNA1A):c.1072G>C (p.Val358Leu)
NM_001127222.2(CACNA1A):c.1082+17C>T rs992037503
NM_001127222.2(CACNA1A):c.1082+19C>A
NM_001127222.2(CACNA1A):c.1082+1G>A rs1272886269
NM_001127222.2(CACNA1A):c.1082+20C>T
NM_001127222.2(CACNA1A):c.979-13T>C
NM_001127222.2(CACNA1A):c.979-19C>G rs2145140905
NM_001127222.2(CACNA1A):c.979-3C>G
NM_001127222.2(CACNA1A):c.979-5T>A rs2145140730
NM_001127222.2(CACNA1A):c.979-69_1082+70del rs2058553788
NM_001127222.2(CACNA1A):c.979-6C>G rs773529741
NM_001127222.2(CACNA1A):c.979-8C>T
NM_001127222.2(CACNA1A):c.979-9A>C
NM_001127222.2(CACNA1A):c.980G>C (p.Ser327Thr)
NM_001127222.2(CACNA1A):c.981C>G (p.Ser327Arg)
NM_001127222.2(CACNA1A):c.984C>G (p.Asn328Lys)
NM_001127222.2(CACNA1A):c.985G>A (p.Asp329Asn) rs1353041373
NM_001127222.2(CACNA1A):c.985G>C (p.Asp329His) rs1353041373
NM_001127222.2(CACNA1A):c.990C>G (p.Ala330=) rs1555767932
NM_001127222.2(CACNA1A):c.990C>T (p.Ala330=)
NM_001127222.2(CACNA1A):c.992C>G (p.Ser331Ter) rs1555767930
NM_001127222.2(CACNA1A):c.998A>G (p.Asn333Ser)

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.