ClinVar Miner

List of variants in gene PFKM studied for not specified

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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000289.6(PFKM):c.1880+27A>G rs4075913 0.78311
NM_000289.6(PFKM):c.428-39G>A rs2269933 0.29774
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.1880+32G>C rs4075914 0.06152
NM_000289.6(PFKM):c.594-38G>A rs41291963 0.02029
NM_000289.6(PFKM):c.1500+32C>T rs41291967 0.02028
NM_000289.6(PFKM):c.1342-14G>T rs56117548 0.01990
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_000289.6(PFKM):c.594-41A>G rs56009798 0.01863
NM_000289.6(PFKM):c.844-44G>T rs73302834 0.01177
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_000289.6(PFKM):c.1819-39A>G rs56138845 0.01083
NM_000289.6(PFKM):c.747+24T>G rs149600978 0.00875
NM_000289.6(PFKM):c.160-44A>G rs116172105 0.00771
NM_000289.6(PFKM):c.1127+43G>C rs74941556 0.00110
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_000289.6(PFKM):c.844-17T>A rs372870462 0.00018
NM_000289.6(PFKM):c.638+15C>A rs376150217 0.00011
NM_000289.6(PFKM):c.1501-15C>T rs756212415 0.00008
NM_000289.6(PFKM):c.594-18T>A rs372899080 0.00007
NM_000289.6(PFKM):c.2085C>T (p.Tyr695=) rs745739278 0.00005
NM_000289.6(PFKM):c.1063-19C>T rs772630501 0.00004
NM_000289.6(PFKM):c.2092+17C>T rs773403779 0.00003
NM_000289.6(PFKM):c.1191+6G>T rs779486374 0.00002
NM_000289.6(PFKM):c.1308C>G (p.Val436=) rs779395140 0.00002
NM_000289.6(PFKM):c.103A>C (p.Arg35=) rs1057522048 0.00001
NM_000289.6(PFKM):c.1127+45G>A rs539959647 0.00001
NM_000289.6(PFKM):c.1260C>T (p.Arg420=) rs756454146 0.00001
NM_000289.6(PFKM):c.1401T>C (p.Leu467=) rs554664722 0.00001
NM_000289.6(PFKM):c.1412+6T>C rs1417385697 0.00001
NM_000289.6(PFKM):c.570T>C (p.Asp190=) rs761133325 0.00001
NM_000289.6(PFKM):c.733C>T (p.Arg245Cys) rs1592742248 0.00001

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