ClinVar Miner

List of variants in gene CACNA1S, LOC101929305 studied for nutritional disorder

Included ClinVar conditions (116):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.*87G>A rs577214090 0.00027
NM_000069.3(CACNA1S):c.*170G>A rs903732048 0.00005
NM_000069.3(CACNA1S):c.*134G>T rs1660042609
NM_000069.3(CACNA1S):c.*183C>T rs886045792
NM_000069.3(CACNA1S):c.5387G>C (p.Gly1796Ala) rs746407476
NM_000069.3(CACNA1S):c.5512G>T (p.Ala1838Ser) rs775740013

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