List of variants in gene combination CACNA1A, LOC126862864 reported as likely benign 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)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.4125C>T (p.Asn1375=)	rs767026062	0.00005
NM_001127222.2(CACNA1A):c.4173C>T (p.Ala1391=)	rs371589326	0.00002
NM_001127222.2(CACNA1A):c.4090-16C>G	rs758220361	0.00001
NM_001127222.2(CACNA1A):c.4143C>T (p.Ile1381=)	rs1244179413	0.00001
NM_001127222.2(CACNA1A):c.4170C>T (p.Phe1390=)	rs760102802	0.00001
NM_001127222.2(CACNA1A):c.4203A>G (p.Lys1401=)	rs1160017642	0.00001
NM_001127222.2(CACNA1A):c.4090-24CT[2]
NM_001127222.2(CACNA1A):c.4090-4A>G	rs2144767685
NM_001127222.2(CACNA1A):c.4179G>A (p.Val1393=)
NM_001127222.2(CACNA1A):c.4197G>A (p.Lys1399=)	rs1475353262
NM_001127222.2(CACNA1A):c.4250+10C>T	rs1340165763
NM_001127222.2(CACNA1A):c.4250+11A>G
NM_001127222.2(CACNA1A):c.4250+15T>C	rs774357662
NM_001127222.2(CACNA1A):c.4250+15T>G
NM_001127222.2(CACNA1A):c.4250+16C>G
NM_001127222.2(CACNA1A):c.4250+19G>A

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