ClinVar Miner

List of variants reported as likely 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001079802.2(FKTN):c.910+13C>T	rs375259473	0.00026
NM_001079802.2(FKTN):c.1299G>A (p.Thr433=)	rs912930168	0.00001
NM_001079802.2(FKTN):c.1311G>A (p.Lys437=)	rs904253784	0.00001
NM_001079802.2(FKTN):c.1044+17G>C	rs200801909

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