List of variants in gene combination CACNA1A, LOC126862864 reported as pathogenic for Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.4095_4096del (p.Val1365_Phe1366insTer)	rs2512759551
NM_001127222.2(CACNA1A):c.4172C>T (p.Ala1391Val)	rs2512759377
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	rs794727411
NM_001127222.2(CACNA1A):c.4203del (p.Lys1401fs)	rs2512759285
NM_001127222.2(CACNA1A):c.4249C>T (p.Arg1417Ter)	rs2056733130

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