List of variants reported as likely pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2B by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro)	rs200916654	0.00003
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)	rs756328339
NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter)	rs770905160
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)	rs121908963
NM_003494.4(DYSF):c.[1670T>C];[4701C>G]

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