ClinVar Miner

List of variants in gene CACNA1A reported by Breakthrough Genomics, Breakthrough Genomics

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Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.1987-98C>T rs4926263 0.99259
NM_001127222.2(CACNA1A):c.6526+137A>G rs10413221 0.98446
NM_001127222.2(CACNA1A):c.4950+96A>C rs16039 0.97758
NM_001127222.2(CACNA1A):c.1199-31A>G rs16008 0.81362
NM_001127222.2(CACNA1A):c.5941-205T>C rs2419233 0.76943
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_001127222.2(CACNA1A):c.2173-12C>T rs16018 0.66161
NM_001127222.2(CACNA1A):c.1198+48G>A rs2306348 0.64420
NM_001127222.2(CACNA1A):c.1198+318G>A rs4926149 0.64397
NM_001127222.2(CACNA1A):c.1198+301G>C rs4926150 0.64040
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_001127222.2(CACNA1A):c.4867-71A>C rs16035 0.59301
NM_001127222.2(CACNA1A):c.5731+49C>T rs3816027 0.54210
NM_001127222.2(CACNA1A):c.4089+71T>C rs16031 0.53636
NM_001127222.2(CACNA1A):c.*147C>A rs7254351 0.47830
NM_001127222.2(CACNA1A):c.293+53G>A rs16003 0.45781
NM_001127222.2(CACNA1A):c.2280-68C>A rs12985136 0.45430
NM_001127222.2(CACNA1A):c.1556-93T>A rs10407951 0.29227
NM_001127222.2(CACNA1A):c.1083-104C>A rs79798415 0.26514
NM_001127222.2(CACNA1A):c.5529-1078C>A rs73922370 0.25181
NM_001127222.2(CACNA1A):c.4756-97G>A rs8103699 0.24285
NM_001127222.2(CACNA1A):c.5249+78G>T rs3765012 0.22456
NM_001127222.2(CACNA1A):c.1345+76G>A rs3764665 0.21715
NM_001127222.2(CACNA1A):c.1083-100A>C rs28425191 0.17765
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030 0.17482
NM_001127222.2(CACNA1A):c.5401-14C>T rs16042 0.16269
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_001127222.2(CACNA1A):c.5941-52C>T rs72995963 0.13943
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_001127222.2(CACNA1A):c.1198+328A>T rs10402089 0.13062
NM_001127222.2(CACNA1A):c.1914-39G>A rs16015 0.12483
NM_001127222.2(CACNA1A):c.400-123G>T rs3764615 0.12411
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) rs16016 0.11927
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_001127222.2(CACNA1A):c.3554-90G>A rs3764580 0.11349
NM_001127222.2(CACNA1A):c.784+313C>T rs57087220 0.11279
NM_001127222.2(CACNA1A):c.3693-127T>C rs72993587 0.08375
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) rs16006 0.08064
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_001127222.2(CACNA1A):c.6303+69A>C rs60185051 0.06829
NM_001127222.2(CACNA1A):c.5528+1223C>T rs17846918 0.06360
NM_001127222.2(CACNA1A):c.1199-194A>G rs10421055 0.04757
NM_001127222.2(CACNA1A):c.1255+132T>C rs41276892 0.04136
NM_001127222.2(CACNA1A):c.7365C>A (p.Pro2455=) rs16057 0.04042
NM_001127222.2(CACNA1A):c.1782-20C>T rs73513425 0.03727
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=) rs16011 0.03687
NM_001127222.2(CACNA1A):c.1668+160T>C rs10407217 0.03687
NM_001127222.2(CACNA1A):c.1198+168T>C rs79653562 0.03515
NM_001127222.2(CACNA1A):c.6837G>A (p.Pro2279=) rs147221323 0.03348
NM_001127222.2(CACNA1A):c.540-30C>G rs17846942 0.03320
NM_001127222.2(CACNA1A):c.3693-107G>A rs78545770 0.03186
NM_001127222.2(CACNA1A):c.1555+60C>T rs28542738 0.02933
NM_001127222.2(CACNA1A):c.4755+100A>G rs10402924 0.02800
NM_001127222.2(CACNA1A):c.3693-249G>A rs10414337 0.02723
NM_001127222.2(CACNA1A):c.400-28C>T rs55839906 0.02487
NM_001127222.2(CACNA1A):c.1781+18C>A rs16013 0.02392
NM_001127222.2(CACNA1A):c.5401-35C>T rs16041 0.02379
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664 0.02366
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.02098
NM_001127222.2(CACNA1A):c.5732-75A>G rs80216489 0.01927
NM_001127222.2(CACNA1A):c.5529-1076C>A rs17846920 0.01911
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01749
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=) rs16044 0.01420
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=) rs16012 0.01217
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894 0.01215
NM_001127222.2(CACNA1A):c.5625+65T>C rs372041159 0.01203
NM_001127222.2(CACNA1A):c.1198+228C>T rs115114908 0.01109
NM_001127222.2(CACNA1A):c.5250-55G>A rs144170644 0.01096
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) rs16019 0.01053
NM_001127222.2(CACNA1A):c.6189+41G>A rs7246682 0.00901
NM_001127222.2(CACNA1A):c.5626-56G>A rs149917710 0.00843
NM_001127222.2(CACNA1A):c.6527-134C>T rs181255369 0.00826
NM_001127222.2(CACNA1A):c.6126G>A (p.Thr2042=) rs7249722 0.00766
NM_001127222.2(CACNA1A):c.*302A>G rs111240372 0.00757
NM_001127222.2(CACNA1A):c.7431C>T (p.Tyr2477=) rs16059 0.00712
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020 0.00616
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026 0.00616
NM_001127222.2(CACNA1A):c.785-93G>A rs114966988 0.00499
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00467
NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=) rs16017 0.00329
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053 0.00188
NM_001127222.2(CACNA1A):c.2104+27G>A rs183378048 0.00143
NM_001127222.2(CACNA1A):c.4950+3704C>T rs370406227 0.00135
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00114
NM_001127222.2(CACNA1A):c.4950+3703A>C rs190268214 0.00114
NM_001127222.2(CACNA1A):c.1914-4G>A rs191026552 0.00108
NM_001127222.2(CACNA1A):c.4950+3617G>A rs370749141 0.00060
NM_001127222.2(CACNA1A):c.6656A>C (p.His2219Pro) rs772789381 0.00055
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) rs16010 0.00030
NM_001127222.2(CACNA1A):c.6050+23A>C rs575642712 0.00024
NM_001127222.2(CACNA1A):c.6584G>A (p.Arg2195Gln) rs373192655 0.00012
NM_001127222.2(CACNA1A):c.549G>T (p.Ala183=) rs16004 0.00006
NM_001127222.2(CACNA1A):c.7233G>C (p.Arg2411=) rs1015330748 0.00006
NM_001127222.2(CACNA1A):c.2626G>A (p.Gly876Ser) rs763054302 0.00005
NM_001127222.2(CACNA1A):c.6193G>A (p.Val2065Met) rs776203885 0.00003
NM_001127222.2(CACNA1A):c.3420C>T (p.Pro1140=) rs542849275 0.00002
NM_001127222.2(CACNA1A):c.5166C>T (p.Asp1722=) rs200501726 0.00002
NM_001127222.2(CACNA1A):c.6647A>C (p.His2216Pro) rs2054687187 0.00002
NM_001127222.2(CACNA1A):c.6653A>C (p.His2218Pro) rs1353109044 0.00002
NM_001127222.2(CACNA1A):c.1669-17C>T rs755846938 0.00001
NM_001127222.2(CACNA1A):c.1899A>G (p.Gln633=) rs769887736 0.00001
NM_001127222.2(CACNA1A):c.2919G>A (p.Ala973=) rs1229290225 0.00001
NM_001127222.2(CACNA1A):c.3639C>T (p.Gly1213=) rs976780203 0.00001
NM_001127222.2(CACNA1A):c.4293A>G (p.Arg1431=) rs913405402 0.00001
NM_001127222.2(CACNA1A):c.6228C>T (p.Ser2076=) rs781315895 0.00001
NM_001127222.2(CACNA1A):c.6316C>T (p.Arg2106Trp) rs771030765 0.00001
NM_001127222.2(CACNA1A):c.*219A>C rs116023034
NM_001127222.2(CACNA1A):c.2584G>A (p.Ala862Thr) rs1283974516
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.4950+72G>A rs16037
NM_001127222.2(CACNA1A):c.5840-82C>G rs17846925
NM_001127222.2(CACNA1A):c.6189+74A>C rs16048
NM_001127222.2(CACNA1A):c.6323G>A (p.Arg2108His) rs867865729
NM_001127222.2(CACNA1A):c.6526+124G>C rs2304093
NM_001127222.2(CACNA1A):c.6526+84G>A rs73509459
NM_001127222.2(CACNA1A):c.7440C>G (p.His2480Gln) rs539546830

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