ClinVar Miner

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

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Total variants: 13
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NM_001127222.2(CACNA1A):c.1166T>C (p.Leu389Pro)
NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln)
NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter)
NM_001127222.2(CACNA1A):c.3901G>A (p.Val1301Ile)
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.5419G>T (p.Ala1807Ser) rs1555736565
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp) rs1057518779
NM_001127222.2(CACNA1A):c.6647A>C (p.His2216Pro)
NM_023035.3(CACNA1A):c.3704+1G>A rs1315533129
NM_023035.3(CACNA1A):c.4001+11T>C rs762686149
NM_023035.3(CACNA1A):c.4186G>A (p.Val1396Met) rs794727411

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