ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive limb-girdle muscular dystrophy type 2M by Genome-Nilou Lab

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys)	rs150591365	0.00001
NM_001079802.2(FKTN):c.*42del	rs749100291
NM_001079802.2(FKTN):c.1150G>T (p.Ala384Ser)	rs1343750016
NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn)	rs2132016533
NM_001079802.2(FKTN):c.824A>G (p.Lys275Arg)	rs2133099564
NM_001079802.2(FKTN):c.934A>G (p.Ile312Val)	rs2133161218
NM_001079802.2(FKTN):c.977A>G (p.Asp326Gly)	rs759791267

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