ClinVar Miner

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

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Total variants: 20
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HGVS dbSNP
NM_001127221.1(CACNA1A):c.1165C>T (p.Leu389Phe) rs121908239
NM_001127221.1(CACNA1A):c.1213G>A (p.Ala405Thr) rs121908245
NM_001127221.1(CACNA1A):c.1502C>T (p.Thr501Met) rs121908240
NM_001127221.1(CACNA1A):c.1913G>A (p.Gly638Asp) rs121908246
NM_001127221.1(CACNA1A):c.2393T>C (p.Met798Thr) rs121908241
NM_001127221.1(CACNA1A):c.2690C>G (p.Pro897Arg) rs121908242
NM_001127221.1(CACNA1A):c.4208T>G (p.Phe1403Cys) rs121908227
NM_001127221.1(CACNA1A):c.4444G>A (p.Gly1482Arg) rs121908232
NM_001127221.1(CACNA1A):c.4469T>C (p.Phe1490Ser) rs121908233
NM_001127221.1(CACNA1A):c.4477G>A (p.Val1493Ile) rs121908234
NM_001127221.1(CACNA1A):c.4982G>A (p.Arg1661His) rs121908216
NM_001127221.1(CACNA1A):c.5035C>T (p.Arg1679Cys) rs121908243
NM_001127221.1(CACNA1A):c.5207A>T (p.His1736Leu) rs121908229
NM_001127221.1(CACNA1A):c.5266G>A (p.Glu1756Lys) rs121908226
NM_001127221.1(CACNA1A):c.5605T>C (p.Cys1869Arg) rs121908244
NM_001127221.1(CACNA1A):c.6403C>T (p.Arg2135Cys) rs121908235
NM_001127221.1(CACNA1A):c.743A>G (p.Tyr248Cys) rs121908238
NM_001127221.1(CACNA1A):c.757C>T (p.His253Tyr) rs121908228
NM_001127221.1(CACNA1A):c.766T>C (p.Cys256Arg) rs121908231
NM_001127221.1(CACNA1A):c.860G>A (p.Cys287Tyr) rs121908236

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