List of variants in gene POMK reported as pathogenic for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP
NM_032237.5(POMK):c.288del (p.Leu97fs)	rs606231306
NM_032237.5(POMK):c.325C>T (p.Gln109Ter)	rs587777423
NM_032237.5(POMK):c.410T>G (p.Leu137Arg)	rs397509385
NM_032237.5(POMK):c.773A>G (p.Gln258Arg)	rs397509386
NM_032237.5(POMK):c.905T>A (p.Val302Asp)	rs199756983

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