List of variants in gene combination CAPN3, LOC130056921 reported as likely benign for autosomal recessive disease

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.1355-6G>A	rs28364485	0.01593
NM_000070.3(CAPN3):c.1355-6G>C
NM_000070.3(CAPN3):c.1355-6G>T	rs28364485
NM_000070.3(CAPN3):c.1355-7G>T
NM_000070.3(CAPN3):c.1368C>G (p.Thr456=)
NM_000070.3(CAPN3):c.1377G>A (p.Gln459=)	rs1555422101
NM_000070.3(CAPN3):c.1383T>A (p.Arg461=)
NM_000070.3(CAPN3):c.1384C>T (p.Leu462=)
NM_000070.3(CAPN3):c.1392C>T (p.Leu464=)	rs752507483
NM_000070.3(CAPN3):c.1393C>T (p.Leu465=)	rs2141199462
NM_000070.3(CAPN3):c.1395G>A (p.Leu465=)	rs760344791

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