ClinVar Miner

List of variants in gene CACNA1A reported as not provided for Episodic ataxia type 2

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00091
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.4474G>A (p.Val1492Ile) rs121908234 0.00001
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys) rs121908243 0.00001
NM_001127222.2(CACNA1A):c.1165C>T (p.Leu389Phe) rs121908239
NM_001127222.2(CACNA1A):c.1910G>A (p.Gly637Asp) rs121908246
NM_001127222.2(CACNA1A):c.2390T>C (p.Met797Thr) rs121908241
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.4979G>A (p.Arg1660His) rs121908216
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.5529-1195T>C rs121908244
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.860G>A (p.Cys287Tyr) rs121908236

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