ClinVar Miner

List of variants in gene CAPN3 reported as pathogenic by GeneReviews

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) rs1555423217
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.946-1G>A rs80338801

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