ClinVar Miner

List of variants in gene CACNA1A reported as likely pathogenic by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 9
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HGVS dbSNP
NM_001127221.1(CACNA1A):c.1364G>A (p.Arg455Gln) rs561858384
NM_001127221.1(CACNA1A):c.1949del (p.Asn650fs) rs1568518113
NM_001127221.1(CACNA1A):c.3686C>T (p.Thr1229Met) rs1057518532
NM_001127221.1(CACNA1A):c.4093-3C>G rs1555745158
NM_001127221.1(CACNA1A):c.5395T>C (p.Ser1799Pro) rs1568443280
NM_001127221.1(CACNA1A):c.5403+2T>C rs1057519197
NM_001127221.1(CACNA1A):c.5628+1G>A rs1555736262
NM_001127221.1(CACNA1A):c.6046G>T (p.Gly2016Ter) rs746848153
NM_001127221.1(CACNA1A):c.814T>C (p.Cys272Arg) rs1568569290

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