List of variants reported as pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2M

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)	rs119464998	0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)	rs267606814	0.00002
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)	rs746763506	0.00001
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)	rs119463992	0.00001
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)	rs398123555
NM_001079802.2(FKTN):c.1363del (p.Asp455fs)	rs587777814
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr)	rs119463995
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)	rs537001725
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser)	rs119463996
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)	rs398123557

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