ClinVar Miner

List of variants in gene PFKM reported as benign by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000289.6(PFKM):c.1880+27A>G rs4075913 0.78311
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_000289.6(PFKM):c.2093-14A>G rs11168427 0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
NM_000289.6(PFKM):c.1342-14G>T rs56117548 0.01990
NM_000289.6(PFKM):c.747+24T>G rs149600978 0.00875

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