ClinVar Miner

List of variants reported as benign for Eichsfeld type congenital muscular dystrophy by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020451.3(SELENON):c.425G>A (p.Cys142Tyr) rs7349185 0.78899
NM_020451.3(SELENON):c.1173T>C (p.Pro391=) rs760597 0.73933
NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys) rs2294228 0.64022

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