ClinVar Miner

List of variants reported for Episodic ataxia type 2 by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.2067_2068delinsGGAG (p.Phe689fs) rs1568514371
NM_001127222.2(CACNA1A):c.2804_2814dup (p.Ser939fs) rs1600272344
NM_001127222.2(CACNA1A):c.3781G>A (p.Ala1261Thr)
NM_001127222.2(CACNA1A):c.4539_4540del (p.Phe1513fs) rs2056600391
NM_001127222.2(CACNA1A):c.7400G>A (p.Arg2467Gln) rs1199275549

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