ClinVar Miner

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

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.180G>T (p.Met60Ile)
NM_000337.6(SGCD):c.784G>A (p.Glu262Lys) rs121909297
NM_000337.6(SGCD):c.854del (p.Asn285fs)

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