ClinVar Miner

List of variants in gene CACNA1A studied for Migraine, familial hemiplegic, 1

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Total variants: 58
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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.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.293+53G>A rs16003 0.45781
NM_001127222.2(CACNA1A):c.2280-68C>A rs12985136 0.45430
NM_001127222.2(CACNA1A):c.4756-97G>A rs8103699 0.24285
NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser) rs751726770 0.00004
NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln) rs768048563 0.00003
NM_001127222.2(CACNA1A):c.6368G>C (p.Arg2123Pro) rs1220294928 0.00002
NM_001127222.2(CACNA1A):c.6647A>C (p.His2216Pro) rs2054687187 0.00002
NM_001127222.2(CACNA1A):c.1166T>C (p.Leu389Pro) rs2058520816
NM_001127222.2(CACNA1A):c.1555+3_1555+6del rs2058143459
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg) rs2057947681
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2138T>C (p.Val713Ala) rs121908213
NM_001127222.2(CACNA1A):c.2142C>A (p.Asp714Glu) rs121908218
NM_001127222.2(CACNA1A):c.2142C>G (p.Asp714Glu) rs121908218
NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter) rs2057372365
NM_001127222.2(CACNA1A):c.3641C>T (p.Pro1214Leu)
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3990-2A>C
NM_001127222.2(CACNA1A):c.4000A>G (p.Lys1334Glu) rs121908223
NM_001127222.2(CACNA1A):c.4027T>C (p.Ser1343Pro) rs2056768058
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127222.2(CACNA1A):c.4089+18T>G rs1600198282
NM_001127222.2(CACNA1A):c.4363G>T (p.Val1455Leu) rs121908237
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del) rs886041279
NM_001127222.2(CACNA1A):c.4534A>G (p.Thr1512Ala)
NM_001127222.2(CACNA1A):c.4702G>A (p.Glu1568Lys)
NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp) rs121908220
NM_001127222.2(CACNA1A):c.5044T>C (p.Trp1682Arg) rs121908221
NM_001127222.2(CACNA1A):c.5080G>A (p.Val1694Ile) rs121908224
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) rs121909326
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu) rs121908214
NM_001127222.2(CACNA1A):c.5625+50CTT[4] rs143245670
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln) rs121908211
NM_001127222.2(CACNA1A):c.584G>A (p.Arg195Lys) rs121908222
NM_001127222.2(CACNA1A):c.6091G>C (p.Val2031Leu)
NM_001127222.2(CACNA1A):c.6189+74A>C rs16048
NM_001127222.2(CACNA1A):c.6303+94del rs3217380
NM_001127222.2(CACNA1A):c.6526+124G>C rs2304093
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127222.2(CACNA1A):c.6565G>A (p.Asp2189Asn) rs2144502827
NM_001127222.2(CACNA1A):c.689G>T (p.Gly230Val) rs1568574634
NM_001127222.2(CACNA1A):c.692T>G (p.Leu231Arg) rs1599292506
NM_001127222.2(CACNA1A):c.7109G>A (p.Arg2370Gln)
NM_001127222.2(CACNA1A):c.816T>A (p.Cys272Ter)
NM_001127222.2(CACNA1A):c.978+1G>C rs2145245078

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