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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
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.527T>C (p.Phe176Ser)	rs119463996

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