ClinVar Miner

List of variants in gene CACNA1S reported as likely pathogenic by GeneDx

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517 0.00056
NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter) rs148317787 0.00004
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys) rs80338778 0.00002
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) rs80338777 0.00001
NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter) rs367983954 0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041 0.00001
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231 0.00001
NM_000069.3(CACNA1S):c.1269G>A (p.Trp423Ter) rs1558075630
NM_000069.3(CACNA1S):c.4038del (p.Glu1348fs) rs1553248947
NM_000069.3(CACNA1S):c.4798-2A>G rs1428157373

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