List of variants in gene combination CACNA1A, LOC126862864 studied for Developmental and epileptic encephalopathy, 42

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.4166T>C (p.Ile1389Thr)	rs2144767456
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	rs794727411
NM_001127222.2(CACNA1A):c.4174G>T (p.Val1392Leu)	rs794727411
NM_001127222.2(CACNA1A):c.4175T>C (p.Val1392Ala)	rs2144767386
NM_001127222.2(CACNA1A):c.4194C>G (p.Phe1398Leu)	rs2512759310
NM_001127222.2(CACNA1A):c.4215C>A (p.Cys1405Ter)	rs2512759230

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