ClinVar Miner

List of variants in gene combination CACNA1A, LOC126862866

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Total variants: 58
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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.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)

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