ClinVar Miner

List of variants in gene CACNA1A reported as likely pathogenic for Inborn genetic diseases

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val) rs1568514116
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.4363G>C (p.Val1455Leu)
NM_001127222.2(CACNA1A):c.485G>T (p.Gly162Val)
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro) rs1568447650
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) rs121909326
NM_001127222.2(CACNA1A):c.5134-2A>C
NM_001127222.2(CACNA1A):c.5260G>A (p.Gly1754Arg) rs1555737113
NM_001127222.2(CACNA1A):c.5941-2A>G rs1555731992

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