ClinVar Miner

List of variants in gene CACNA1A reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NC_000019.9:g.(13470614_13476130)_(13566027_13616745)dup
NM_001127221.2(CACNA1A):c.5559_5560del (p.Tyr1853_Ser1854delinsTer) rs1568440440
NM_001127222.2(CACNA1A):c.2343dup (p.Arg782fs)
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys) rs794727558
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter) rs1555730878
NM_001127222.2(CACNA1A):c.815G>A (p.Cys272Tyr) rs771682941

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