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rs797044621

From SNPedia

ClinVar
Risk rs797044621(GGCCGGGCCC;GGCCGGGCCC)
Alt rs797044621(GGCCGGGCCC;GGCCGGGCCC)
Reference rs797044621(;)
Significance Pathogenic
Disease Eichsfeld type congenital muscular dystrophy
Variation info
Gene SEPN1
CLNDBN Eichsfeld type congenital muscular dystrophy
Reversed 0
HGVS NC_000001.10:g.26126734_26126743dupCGGCCGGGCC
CLNSRC
CLNACC RCV000173501.1,