ClinVar Miner

List of variants in gene CAPN3 reported as pathogenic by Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000070.2(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000070.2(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000070.3(CAPN3):c.2051-1G>T rs886042108

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