ClinVar Miner

List of variants in gene CACNA1A reported by New York Genome Center

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.7327G>A (p.Ala2443Thr) rs533884784 0.00017
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001127222.2(CACNA1A):c.2881C>T (p.His961Tyr) rs1406066197 0.00004
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln) rs745775887 0.00004
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val) rs952757731 0.00002
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile) rs756562814 0.00001
NM_001127222.2(CACNA1A):c.2287C>A (p.Gln763Lys) rs2057741441 0.00001
NM_001127222.2(CACNA1A):c.1199-7T>A rs2145126181
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg) rs751726770
NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp) rs747413278
NM_001127222.2(CACNA1A):c.3017G>T (p.Arg1006Leu)
NM_001127222.2(CACNA1A):c.3090-5C>T rs976595665
NM_001127222.2(CACNA1A):c.3145C>A (p.Pro1049Thr) rs2057414205
NM_001127222.2(CACNA1A):c.3643A>G (p.Lys1215Glu) rs1476884019
NM_001127222.2(CACNA1A):c.3822+70A>G rs1462524553
NM_001127222.2(CACNA1A):c.6506G>T (p.Arg2169Leu) rs1417890059
NM_001127222.2(CACNA1A):c.7445T>G (p.Leu2482Arg) rs2144488387

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