List of variants reported as likely pathogenic for Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 52 by Wendy Chung Laboratory, Columbia University Medical Center

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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile)	rs1296629000	0.00001
NM_001127222.2(CACNA1A):c.1850T>C (p.Leu617Ser)	rs2145004155
NM_001127222.2(CACNA1A):c.2017_2034del (p.Met673_Lys678del)	rs2144980726
NM_001127222.2(CACNA1A):c.2099G>A (p.Gly700Glu)	rs2144980363
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)	rs764839814
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.3948C>A (p.Asp1316Glu)	rs2144833336
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr)	rs2056767982
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)	rs2144773045
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)	rs1555745467
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn)	rs2056767062
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn)	rs1555740805
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)	rs1064795531
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro)	rs1568447650
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro)	rs1057519429
NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr)	rs2144647872
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu)	rs1064794261
NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala)	rs2144622461
NM_001127222.2(CACNA1A):c.652T>C (p.Ser218Pro)	rs2144523407
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)	rs1555773764

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