ClinVar Miner

List of variants reported for Limb-girdle muscular dystrophy by Institute of Human Genetics, University of Wuerzburg

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_017739.4(POMGNT1):c.1153-6T>C
NM_024301.5(FKRP):c.605T>C (p.Leu202Pro)

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