ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.2879C>T (p.Ala960Val) rs762396014 0.00003
NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met) rs771104002 0.00003
NM_001127222.2(CACNA1A):c.6368G>C (p.Arg2123Pro) rs1220294928 0.00002
NM_001127222.2(CACNA1A):c.1781A>C (p.Lys594Thr) rs2145005448
NM_001127222.2(CACNA1A):c.2867G>A (p.Arg956Gln) rs551380805
NM_001127222.2(CACNA1A):c.3058_3075dup (p.Arg1025_His1026insGluAspLysGluArgArg)
NM_001127222.2(CACNA1A):c.3143G>A (p.Arg1048Gln)
NM_001127222.2(CACNA1A):c.3641C>T (p.Pro1214Leu)
NM_001127222.2(CACNA1A):c.5879T>A (p.Met1960Lys)
NM_001127222.2(CACNA1A):c.6113T>C (p.Met2038Thr)
NM_001127222.2(CACNA1A):c.6128G>T (p.Gly2043Val)
NM_001127222.2(CACNA1A):c.6209T>C (p.Met2070Thr) rs2144523250
NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr) rs17846928
NM_001127222.2(CACNA1A):c.6565G>A (p.Asp2189Asn) rs2144502827
NM_001127222.2(CACNA1A):c.7055A>G (p.Asp2352Gly)
NM_001127222.2(CACNA1A):c.7133A>C (p.Glu2378Ala)
NM_001127222.2(CACNA1A):c.7485C>G (p.His2495Gln)

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