ClinVar Miner

List of variants reported as pathogenic for Glycogen storage disease, type VII by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000289.6(PFKM):c.237+1G>A	rs202143236	0.00006
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter)	rs138893744	0.00001
NM_000289.6(PFKM):c.2003del (p.Pro668fs)	rs767095759

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