List of variants in gene CAPN3 reported as uncertain significance by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.1746-20C>G	rs201892814	0.00320
NM_000070.3(CAPN3):c.*534T>C	rs772498665	0.00016
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)	rs142004418	0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)	rs764370512	0.00001
NM_000070.3(CAPN3):c.1193+6T>A	rs1555421532
NM_000070.3(CAPN3):c.1354+129T>A
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)	rs1555420468
NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr)	rs794727615
NM_000070.3(CAPN3):c.679G>A (p.Ala227Thr)	rs1595822648

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