ClinVar Miner

List of variants in gene CACNA1A reported as likely pathogenic by Athena Diagnostics Inc

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Gene type:
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Total variants: 6
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NM_001127221.1(CACNA1A):c.104del (p.Gly35fs) rs1568720031
NM_001127221.1(CACNA1A):c.3264_3319del (p.Leu1091fs) rs1555752975
NM_001127221.1(CACNA1A):c.4075C>T (p.Arg1359Trp) rs1555745461
NM_001127221.1(CACNA1A):c.4982G>A (p.Arg1661His) rs121908216
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127221.1(CACNA1A):c.5128G>A (p.Gly1710Arg) rs1555738200

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