List of variants reported as likely pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2A by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)	rs200379491	0.00005
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)	rs199806879	0.00004
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)	rs557164942	0.00003
NM_000070.3(CAPN3):c.1743dup (p.Glu582Ter)
NM_000070.3(CAPN3):c.1910dup (p.Gln638fs)	rs2548288015
NM_000070.3(CAPN3):c.1963del (p.Arg655fs)	rs1566984441
NM_000070.3(CAPN3):c.2235C>G (p.Tyr745Ter)
NM_000070.3(CAPN3):c.2333_2336dup (p.Phe779fs)	rs2548294490
NM_000070.3(CAPN3):c.632A>G (p.Lys211Arg)
NM_000070.3(CAPN3):c.728_762dup (p.Ala255delinsMetLeuLeuValThrCysThrArgSerTer)	rs2548260430

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