ClinVar Miner

List of variants in gene CACNA1A reported by Illumina Laboratory Services, Illumina

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Total variants: 8
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 19p13.2(chr19:13374979-13388396)x1
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2796C>A (p.His932Gln) rs772941423
NM_001127222.2(CACNA1A):c.2924G>A (p.Arg975Gln) rs748418783
NM_001127222.2(CACNA1A):c.4471G>T (p.Val1491Phe) rs1211294190
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn) rs1555740805
NM_001127222.2(CACNA1A):c.631+5G>A rs786200963
NM_001127222.2(CACNA1A):c.7404C>A (p.His2468Gln) rs748037256

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