List of variants in gene combination CAPN3, LOC126862115 reported as pathogenic for hereditary skeletal muscle disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.439C>T (p.Arg147Ter)	rs878854364	0.00001
NC_000015.10:g.(?_42359796)_(42399662_?)del
NM_000070.3(CAPN3):c.380-1G>A
NM_000070.3(CAPN3):c.380-2A>G
NM_000070.3(CAPN3):c.380-8_395del	rs1555420302
NM_000070.3(CAPN3):c.380G>A (p.Gly127Glu)
NM_000070.3(CAPN3):c.382del	rs2141160425
NM_000070.3(CAPN3):c.389G>A (p.Trp130Ter)	rs2141160443
NM_000070.3(CAPN3):c.390del (p.Trp130fs)
NM_000070.3(CAPN3):c.402del (p.Ile135fs)	rs746935735
NM_000070.3(CAPN3):c.412dup (p.Leu138fs)	rs2141160513
NM_000070.3(CAPN3):c.424C>T (p.Gln142Ter)
NM_000070.3(CAPN3):c.427del (p.His143fs)
NM_000070.3(CAPN3):c.433del (p.Leu145fs)	rs2141160577
NM_000070.3(CAPN3):c.444del (p.Ile149fs)	rs2053401167
NM_000070.3(CAPN3):c.483del (p.Ile162fs)	rs863224963
NM_000070.3(CAPN3):c.496del (p.Gln166fs)
NM_000070.3(CAPN3):c.498+1G>A	rs2141160881

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