ClinVar Miner

List of variants in gene PFKM reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_000289.6(PFKM):c.1880+27A>G rs4075913 0.78311
NM_000289.6(PFKM):c.160-295A>G rs1476607 0.73200
NM_000289.6(PFKM):c.1062+288T>A rs10875749 0.70773
NM_000289.6(PFKM):c.1341+161dup rs34700912 0.48975
NM_000289.5(PFKM):c.-112T>G rs12306290 0.29895
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.-8-254T>C rs4760683 0.26926
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) rs11609399 0.21767
NM_000289.6(PFKM):c.-8-457C>A rs72644847 0.20577
NM_000289.6(PFKM):c.639-85T>C rs2286020 0.19143
NM_000289.6(PFKM):c.1192-217T>G rs58556309 0.19136
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_000289.6(PFKM):c.594-300C>T rs11168424 0.18949
NM_001166686.2(PFKM):c.205+123A>G rs725454 0.18000
NM_000289.6(PFKM):c.238-291A>G rs10875748 0.17228
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.-8-86G>T rs2269935 0.16268
NM_001267594.1(SENP1):c.-165T>A rs4760619 0.11643
NM_001166686.2(PFKM):c.-9-284C>G rs78782922 0.06213
NM_000289.6(PFKM):c.427+52G>A rs41291961 0.06210
NM_000289.5(PFKM):c.-171C>A rs41291959 0.06201
NM_000289.6(PFKM):c.427+129T>G rs55682541 0.06198
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
NM_000289.6(PFKM):c.237+201G>A rs79426695 0.06192
NM_000289.6(PFKM):c.237+188G>A rs80206782 0.06191
NM_000289.6(PFKM):c.1880+32G>C rs4075914 0.06152
NM_000289.6(PFKM):c.428-68T>C rs78911623 0.06025
NM_000289.6(PFKM):c.1993-199A>G rs41291969 0.06016
NM_000289.6(PFKM):c.-9+86A>G rs58373242 0.03415
NM_001166686.2(PFKM):c.205+166G>A rs73102080 0.02389
NM_000289.6(PFKM):c.86-54G>T rs75650121 0.02241
NM_000289.6(PFKM):c.1653+110T>G rs74089120 0.02188
NM_000289.6(PFKM):c.160-305T>G rs59896935 0.02170
NM_000289.6(PFKM):c.159+89C>A rs74089112 0.02152
NM_000289.6(PFKM):c.1127+217G>A rs77605341 0.02135
NM_000289.6(PFKM):c.1818+153del rs60344827 0.02114
NM_000289.6(PFKM):c.639-145C>T rs59233899 0.02047
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.1191+125G>T rs112653217 0.02026
NM_000289.6(PFKM):c.237+73G>T rs78042191 0.01997
NM_000289.6(PFKM):c.1342-14G>T rs56117548 0.01990
NM_000289.6(PFKM):c.1412+114C>T rs79454264 0.01986
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_001267594.1(SENP1):c.-132G>A rs140895856 0.01903
NM_000289.6(PFKM):c.1654-159A>G rs74089122 0.01874
NM_000289.6(PFKM):c.160-229A>G rs56692411 0.01864
NM_000289.6(PFKM):c.594-41A>G rs56009798 0.01863
NM_000289.6(PFKM):c.1341+83C>T rs73302843 0.01227
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_001166686.2(PFKM):c.205+55A>C rs111629833 0.01060
NM_000289.6(PFKM):c.1063-265G>A rs139490758 0.00879
NM_000289.6(PFKM):c.936+287C>T rs140029354 0.00877
NM_000289.6(PFKM):c.593+255T>C rs147992657 0.00876
NM_000289.6(PFKM):c.594-295A>G rs146169140 0.00876
NM_000289.6(PFKM):c.747+24T>G rs149600978 0.00875
NM_000289.6(PFKM):c.1654-262T>G rs184694517 0.00821
NM_000289.6(PFKM):c.160-44A>G rs116172105 0.00771
NM_000289.6(PFKM):c.936+264G>A rs73302836 0.00621
NM_000289.6(PFKM):c.237+214G>A rs117834598 0.00454
NM_000289.6(PFKM):c.160-260A>G rs76437584 0.00304
NM_001166686.2(PFKM):c.-9-281A>T rs546943989 0.00290
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928 0.00243
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_000289.6(PFKM):c.1992+37A>G rs199594588 0.00198
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_000289.6(PFKM):c.427+49C>T rs117340369 0.00025
NM_000289.6(PFKM):c.1653+8C>T rs369425921 0.00022
NM_000289.6(PFKM):c.459C>T (p.Ser153=) rs145519821 0.00021
NM_000289.6(PFKM):c.52A>G (p.Ile18Val) rs150405056 0.00020
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.237+1G>A rs202143236 0.00006
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.59T>C (p.Val20Ala) rs755992543 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.262C>T (p.Arg88Trp) rs757746489 0.00002
NM_000289.6(PFKM):c.817C>A (p.Pro273Thr) rs576835893 0.00002
NM_000289.6(PFKM):c.103A>C (p.Arg35=) rs1057522048 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.1857T>C (p.Thr619=) rs762229855 0.00001
NM_000289.6(PFKM):c.483G>A (p.Leu161=) rs199856938 0.00001
NM_000289.6(PFKM):c.570T>C (p.Asp190=) rs761133325 0.00001
NM_000289.6(PFKM):c.1034G>A (p.Arg345His)
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) rs1064795749
NM_000289.6(PFKM):c.1413-58C>A rs78496902
NM_000289.6(PFKM):c.1654-266_1654-263del rs201738718
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2327G>A (p.Gly776Glu)
NM_000289.6(PFKM):c.428-128C>G rs112524281
NM_000289.6(PFKM):c.638+161C>T rs2286021
NM_000289.6(PFKM):c.639-10C>G rs2135915213
NM_000289.6(PFKM):c.874C>T (p.Arg292Trp)
NM_000289.6(PFKM):c.936+228C>A rs55752728
NM_000289.6(PFKM):c.936+46C>T rs184861460
NM_001166686.2(PFKM):c.82+173A>G rs10492080
NM_001354741.2(PFKM):c.-81+2015G>A rs1443786102

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