ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2F by Genome-Nilou Lab

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000337.6(SGCD):c.192+1G>A	rs1267810339
NM_000337.6(SGCD):c.294+1G>A	rs727503422
NM_000337.6(SGCD):c.390del (p.Ala131fs)	rs397517921

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