ClinVar Miner

List of variants reported as likely pathogenic for Episodic ataxia type 2

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Total variants: 18
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HGVS dbSNP
NM_001127222.2(CACNA1A):c.1059C>G (p.Asn353Lys) rs1568546593
NM_001127222.2(CACNA1A):c.1435del (p.Ile479fs)
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met) rs374686479
NM_001127222.2(CACNA1A):c.2067_2068delinsGGAG (p.Phe689fs) rs1568514371
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter) rs1600271575
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3989+1G>C
NM_001127222.2(CACNA1A):c.4045G>A (p.Val1349Met) rs1600198481
NM_001127222.2(CACNA1A):c.4591-2A>G rs1600180659
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.6303+1G>A rs1600088360
NM_001127222.2(CACNA1A):c.631+5G>A rs786200963
NM_001127222.2(CACNA1A):c.644T>C (p.Val215Ala) rs1599292631
NM_001127222.2(CACNA1A):c.653C>G (p.Ser218Trp) rs121908225
NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr) rs121908228
NM_001127222.2(CACNA1A):c.979-69_1082+70del
NM_023035.3(CACNA1A):c.4186G>A (p.Val1396Met) rs794727411

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