ClinVar Miner

List of variants reported as likely benign for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_133642.5(LARGE1):c.309C>T (p.Ser103=) rs59349720 0.01803
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_133642.5(LARGE1):c.*1235A>G rs1801820 0.00539
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala) rs34642406 0.00430
NM_133642.5(LARGE1):c.*796C>T rs144150303 0.00046
NM_133642.5(LARGE1):c.1878-11G>T rs200819807 0.00025
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile) rs576967464 0.00021
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr) rs398124184 0.00001

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