ClinVar Miner

List of variants reported as likely 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001079802.2(FKTN):c.330dup (p.Thr111fs)	rs767865405
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs)	rs760731888
NM_001079802.2(FKTN):c.648-1243G>T	rs1554754182
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)	rs377417974

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