ClinVar Miner

List of variants reported as uncertain significance for Timothy syndrome by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.4436T>C (p.Phe1479Ser) rs2096050688

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