ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2I by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	rs28937900	0.00103
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)	rs104894691	0.00004

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