ClinVar Miner

List of variants studied for Glycogen storage disease, type VII by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358 0.00001
NM_000289.6(PFKM):c.1191+1G>A rs746348793 0.00001
NM_000289.6(PFKM):c.238-3A>G
NM_000289.6(PFKM):c.626G>A (p.Gly209Asp)

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