ClinVar Miner

List of variants in gene CACNA1A studied for Epileptic encephalopathy, early infantile, 42

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Total variants: 9
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HGVS dbSNP
NM_001127221.1(CACNA1A):c.175A>G (p.Met59Val)
NM_001127221.1(CACNA1A):c.2127C>A (p.Phe709Leu) rs762654239
NM_001127221.1(CACNA1A):c.2137G>A (p.Ala713Thr) rs886037945
NM_001127221.1(CACNA1A):c.2147A>C (p.Asn716Thr) rs1555757432
NM_001127221.1(CACNA1A):c.301G>C (p.Glu101Gln) rs886037944
NM_001127221.1(CACNA1A):c.3043G>A (p.Glu1015Lys) rs16024
NM_001127221.1(CACNA1A):c.4046G>A (p.Arg1349Gln) rs1057520918
NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) rs794727411
NM_001127221.1(CACNA1A):c.4522G>T (p.Ala1508Ser) rs886037946

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