ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2W by Kariminejad - Najmabadi Pathology & Genetics Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001161403.3(LIMS2):c.145C>A (p.Pro49Thr) rs202166665 0.00006
NM_001161403.3(LIMS2):c.345GAA[1] (p.Lys116del) rs762526323

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