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rs863224966

From SNPedia

ClinVar
Risk rs863224966(CTT;CTT)
Alt rs863224966(CTT;CTT)
Reference rs863224966(GATA;GATA)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene CAPN3
CLNDBN Limb-girdle muscular dystrophy, type 2A
Reversed 0
HGVS NC_000015.9:g.42682232_42682235delGATAinsCTT
CLNSRC Quest Diagnostics
CLNACC RCV000201036.1,