ClinVar Miner

List of variants reported for Autosomal recessive limb-girdle muscular dystrophy type 2J by Institute of Human Genetics, Cologne University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.105520del (p.Arg35174fs) rs1688921542
NM_001267550.2(TTN):c.98515_98568del (p.Pro32839_Val32856del) rs1693333622

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