ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP
NM_000289.6(PFKM):c.1342-14G>T rs56117548
NM_000289.6(PFKM):c.1500+32C>T rs41291967
NM_000289.6(PFKM):c.2093-14A>G rs11168427
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392
NM_000289.6(PFKM):c.888G>A (p.Leu296=)
NM_001166686.2(PFKM):c.206-3464T>G rs12306290

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