ClinVar Miner

List of variants in gene CACNA1A reported as likely pathogenic by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp) rs1057518779 0.00001
NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter) rs2057372365
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.5419G>T (p.Ala1807Ser) rs1555736565

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