ClinVar Miner

List of variants in gene CACNA1A reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys) rs779576853 0.00001
NM_001127222.2(CACNA1A):c.1560T>G (p.Tyr520Ter) rs1431177448
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1984C>T (p.Gln662Ter) rs1064795856
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.1999G>A (p.Glu667Lys) rs2057842904
NM_001127222.2(CACNA1A):c.2312del (p.Lys771fs) rs2057740525
NM_001127222.2(CACNA1A):c.3072dup (p.Arg1025fs)
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3882+2T>C rs2057168559
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127222.2(CACNA1A):c.4067_4069del (p.Ile1356del)
NM_001127222.2(CACNA1A):c.4430G>A (p.Gly1477Asp) rs2056602306
NM_001127222.2(CACNA1A):c.4434del (p.Ser1479fs) rs2056602254
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp) rs121908220
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln) rs1568447650
NM_001127222.2(CACNA1A):c.5238dup (p.Leu1747fs)
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127222.2(CACNA1A):c.781del (p.Thr261fs) rs2059189334
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764

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