List of variants in gene CAPN3 reported as pathogenic by Mayo Clinic Laboratories, Mayo Clinic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)	rs376107921	0.00013
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)	rs200646556	0.00005
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)	rs80338802	0.00003
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)	rs863224965
NM_000070.3(CAPN3):c.550del (p.Thr184fs)	rs80338800
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del)	rs727503837
NM_000070.3(CAPN3):c.801+1G>A	rs1459288402

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