List of variants studied for Limb-girdle muscular dystrophy due to POMK deficiency

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_032237.5(POMK):c.282+34C>A	rs5024011	0.99646
NM_032237.5(POMK):c.136C>T (p.Arg46Ter)	rs202036744	0.00017
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)	rs200056620	0.00008
NM_032237.5(POMK):c.907C>T (p.Arg303Ter)	rs528307346	0.00001
NM_032237.5(POMK):c.325C>T (p.Gln109Ter)	rs587777423
NM_032237.5(POMK):c.965C>T (p.Pro322Leu)	rs747083630

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