List of variants in gene combination CACNA1A, LOC126862864 reported as uncertain significance for episodic ataxia type 2

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

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.4090-3C>T
NM_001127222.2(CACNA1A):c.4091C>A (p.Ala1364Asp)
NM_001127222.2(CACNA1A):c.4094T>A (p.Val1365Glu)	rs2144767656
NM_001127222.2(CACNA1A):c.4102T>C (p.Cys1368Arg)	rs886041909
NM_001127222.2(CACNA1A):c.4107G>A (p.Val1369=)	rs1568472202
NM_001127222.2(CACNA1A):c.4135A>T (p.Ile1379Phe)	rs1600195869
NM_001127222.2(CACNA1A):c.4144G>T (p.Val1382Phe)	rs2144767519
NM_001127222.2(CACNA1A):c.4154T>C (p.Leu1385Pro)
NM_001127222.2(CACNA1A):c.4166T>C (p.Ile1389Thr)	rs2144767456
NM_001127222.2(CACNA1A):c.4171G>T (p.Ala1391Ser)	rs1398841527
NM_001127222.2(CACNA1A):c.4173_4174insATCTTC (p.Ala1391_Val1392insIlePhe)	rs1600195777
NM_001127222.2(CACNA1A):c.4174G>T (p.Val1392Leu)	rs794727411
NM_001127222.2(CACNA1A):c.4193T>C (p.Phe1398Ser)
NM_001127222.2(CACNA1A):c.4199G>C (p.Gly1400Ala)	rs1555745111
NM_001127222.2(CACNA1A):c.4202A>G (p.Lys1401Arg)	rs2144767291
NM_001127222.2(CACNA1A):c.4210C>T (p.His1404Tyr)
NM_001127222.2(CACNA1A):c.4228A>G (p.Lys1410Glu)	rs932772664
NM_001127222.2(CACNA1A):c.4250+13T>C

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