List of variants in gene CAPN3, LOC130056921 studied for autosomal recessive disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.1355-6G>A	rs28364485	0.01593
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)	rs1274808359	0.00001
NM_000070.3(CAPN3):c.1382G>A (p.Arg461His)	rs767398783	0.00001
NM_000070.3(CAPN3):c.1355-1G>C	rs747557404
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.1355A>G (p.Asp452Gly)
NM_000070.3(CAPN3):c.1357dup (p.Thr453fs)
NM_000070.3(CAPN3):c.1363T>C (p.Trp455Arg)	rs2141199370
NM_000070.3(CAPN3):c.1368C>G (p.Thr456=)
NM_000070.3(CAPN3):c.1375C>T (p.Gln459Ter)
NM_000070.3(CAPN3):c.1377G>A (p.Gln459=)	rs1555422101
NM_000070.3(CAPN3):c.1377G>T (p.Gln459His)	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
NM_000070.3(CAPN3):c.1395GGA[2] (p.Glu467del)	rs746075428

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