ClinVar Miner

List of variants studied for Limb-girdle muscular dystrophy due to POMK deficiency by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_032237.5(POMK):c.136C>T (p.Arg46Ter)	rs202036744	0.00017
NM_032237.5(POMK):c.965C>T (p.Pro322Leu)	rs747083630

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