ClinVar Miner

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

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)	rs34787999	0.25357
NM_001079802.2(FKTN):c.-45G>T	rs77013649

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