ClinVar Miner

List of variants reported as not provided for Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2

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Total variants: 3
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HGVS dbSNP
NM_013382.5(POMT2):c.593T>A (p.Ile198Asn) rs267606972
NM_013382.5(POMT2):c.845G>A (p.Arg282His)
NM_013382.5(POMT2):c.936C>G (p.Asp312Glu)

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