ClinVar Miner

List of variants in gene CACNA1S studied for syndrome caused by partial chromosomal deletion

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959 0.00097

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