ClinVar Miner

List of variants in gene CACNA1S reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 8
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HGVS dbSNP
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His)
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys) rs532351874
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.3(CACNA1S):c.1502G>T (p.Cys501Phe) rs767628675
NM_000069.3(CACNA1S):c.4543+4G>A rs776190353
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930
NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe) rs747238231
NM_000069.3(CACNA1S):c.4915G>A (p.Glu1639Lys) rs758332515

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