ClinVar Miner

List of variants reported as pathogenic for Limb-girdle muscular dystrophy due to POMK deficiency

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620 0.00008
NM_032237.5(POMK):c.325C>T (p.Gln109Ter) rs587777423

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