ClinVar Miner

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

Included ClinVar conditions (4):

Autosomal recessive limb-girdle muscular dystrophy type 2M
Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
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.1167dup (p.Phe390fs)	rs398123555
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)	rs537001725
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)	rs398123557

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