ClinVar Miner

List of variants in gene CACNA1A reported by Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

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Total variants: 9
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HGVS dbSNP
NM_001127221.1(CACNA1A):c.1360G>A (p.Ala454Thr) rs41276886
NM_001127221.1(CACNA1A):c.1785G>A (p.Lys595=) rs756972061
NM_001127221.1(CACNA1A):c.2340_2341insCAAGTCCGTGTGGGAGCAGCGGACCAGT (p.Glu781Glnfs) rs1057520154
NM_001127221.1(CACNA1A):c.2690C>G (p.Pro897Arg) rs121908242
NM_001127221.1(CACNA1A):c.2740C>T (p.Pro914Ser) rs16020
NM_001127221.1(CACNA1A):c.3043G>A (p.Glu1015Lys) rs16024
NM_001127221.1(CACNA1A):c.6657_6659delCCA (p.His2220del) rs759331923
NM_001127221.1(CACNA1A):c.6659_6661delATC (p.His2220del) rs749638821
NM_001127221.1(CACNA1A):c.6661_6662insACC (p.His2220_Pro2221insHis) rs768950814

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