ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance for Inborn genetic diseases

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Total variants: 7
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HGVS dbSNP
NM_001127221.1(CACNA1A):c.*636G>T rs1239663368
NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) rs794727411
NM_001127221.1(CACNA1A):c.4900G>A (p.Asp1634Asn) rs1555740805
NM_001127221.1(CACNA1A):c.5263G>A (p.Gly1755Arg) rs1555737113
NM_001127221.1(CACNA1A):c.5894A>G (p.Tyr1965Cys) rs1555732391
NM_001127221.1(CACNA1A):c.5944-2A>G rs1555731992
NM_001127221.1(CACNA1A):c.6206G>A (p.Arg2069Gln) rs769040794

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