ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2I by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.1130A>G (p.Gln377Arg) rs2122631661
NM_024301.5(FKRP):c.587G>A (p.Gly196Glu)
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp) rs2054912295

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