ClinVar Miner

List of variants in gene PFKM reported as likely benign for Glycogen storage disease, type VII

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Gene type:
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Total variants: 5
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NM_000289.6(PFKM):c.1342-14G>T rs56117548
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507
NM_001166686.2(PFKM):c.206-3523C>A rs41291959

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