List of variants in gene combination CAPN3, LOC126862115 reported as likely pathogenic 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000070.2(CAPN3):c.[223dupT];[439C>T]
NM_000070.3(CAPN3):c.380-8_395del	rs1555420302
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr)	rs946415346
NM_000070.3(CAPN3):c.402del (p.Ile135fs)	rs746935735
NM_000070.3(CAPN3):c.413T>C (p.Leu138Pro)

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