ClinVar Miner

List of variants in gene CAPN3 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr) rs138857720
NM_000070.3(CAPN3):c.1746-20C>G rs201892814
NM_000070.3(CAPN3):c.481G>A (p.Gly161Arg) rs1566974488

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