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rs797044728

From SNPedia

ClinVar
Risk rs797044728(GAGTGCCTAAC;GAGTGCCTAAC)
Alt rs797044728(GAGTGCCTAAC;GAGTGCCTAAC)
Reference rs797044728(;)
Significance Pathogenic
Disease Merosin deficient congenital muscular dystrophy
Variation info
Gene LAMA2
CLNDBN Merosin deficient congenital muscular dystrophy
Reversed 0
HGVS NC_000006.11:g.129419445_129419455dupAGTGCCTAACG
CLNSRC
CLNACC RCV000178101.1,