ClinVar Miner

List of variants in gene CACNA1A reported as not provided

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00091
NM_001127222.2(CACNA1A):c.546G>A (p.Leu182=) rs368347143 0.00006
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr) rs121908245 0.00001
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met) rs121908240 0.00001
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile) rs756562814 0.00001
NM_001127222.2(CACNA1A):c.4474G>A (p.Val1492Ile) rs121908234 0.00001
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys) rs121908243 0.00001
NM_001127222.2(CACNA1A):c.6281C>T (p.Pro2094Leu) rs769128653 0.00001
NM_001127222.2(CACNA1A):c.6575C>T (p.Ser2192Leu) rs1325697290 0.00001
GRCh37/hg19 19p13.2(chr19:13418596-13419188)x1
NM_001127222.2(CACNA1A):c.1165C>T (p.Leu389Phe) rs121908239
NM_001127222.2(CACNA1A):c.1199A>T (p.Glu400Val) rs1600353470
NM_001127222.2(CACNA1A):c.1237C>T (p.Gln413Ter)
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1910G>A (p.Gly637Asp) rs121908246
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2138T>C (p.Val713Ala) rs121908213
NM_001127222.2(CACNA1A):c.2142C>G (p.Asp714Glu) rs121908218
NM_001127222.2(CACNA1A):c.2390T>C (p.Met797Thr) rs121908241
NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs) rs1555755909
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val) rs1599294284
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.4000A>G (p.Lys1334Glu) rs121908223
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro) rs2144773045
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4363G>T (p.Val1455Leu) rs121908237
NM_001127222.2(CACNA1A):c.4441G>A (p.Gly1481Arg) rs121908232
NM_001127222.2(CACNA1A):c.4466T>C (p.Phe1489Ser) rs121908233
NM_001127222.2(CACNA1A):c.4515T>G (p.Phe1505Leu) rs757643322
NM_001127222.2(CACNA1A):c.4804A>G (p.Ile1602Val) rs2056444576
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
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.5204A>T (p.His1735Leu) rs121908229
NM_001127222.2(CACNA1A):c.5263G>A (p.Glu1755Lys) rs121908226
NM_001127222.2(CACNA1A):c.5410C>T (p.Leu1804Phe)
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu) rs121908214
NM_001127222.2(CACNA1A):c.5529-1195T>C rs121908244
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.5936A>C (p.Glu1979Ala)
NM_001127222.2(CACNA1A):c.6205G>A (p.Glu2069Lys) rs543458967
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) rs775428832
NM_001127222.2(CACNA1A):c.743A>G (p.Tyr248Cys) rs121908238
NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr) rs121908228
NM_001127222.2(CACNA1A):c.766T>C (p.Cys256Arg) rs121908231
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127222.2(CACNA1A):c.860G>A (p.Cys287Tyr) rs121908236
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) rs121908215

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