ClinVar Miner

List of variants in gene PFKM studied for not provided

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Gene type:
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Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_001354735.1(PFKM):c.226C>A (p.Gln76Lys) rs4760682 0.86945
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_000289.5(PFKM):c.-11098A>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_001166686.2(PFKM):c.-10+11A>T rs4760619 0.11643
NM_000289.5(PFKM):c.-12334C>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_001166686.2(PFKM):c.-32C>T 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.1500+29C>T rs138256599 0.00183
NM_000289.5(PFKM):c.-177G>C rs78512814 0.00162
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) rs140473672 0.00078
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe) rs370424471 0.00028
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.2201A>G (p.His734Arg) rs141570669 0.00022
NM_000289.6(PFKM):c.459C>T (p.Ser153=) rs145519821 0.00021
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881 0.00021
NM_000289.6(PFKM):c.52A>G (p.Ile18Val) rs150405056 0.00020
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys) rs774921979 0.00012
NM_000289.6(PFKM):c.1060G>A (p.Val354Met) rs930337550 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly) rs148544344 0.00005
NM_000289.6(PFKM):c.1956C>T (p.Phe652=) rs771733776 0.00004
NM_000289.6(PFKM):c.59T>C (p.Val20Ala) rs755992543 0.00004
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile) rs774425888 0.00003
NM_000289.6(PFKM):c.2194T>G (p.Phe732Val) rs369389809 0.00003
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg) rs199528011 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.1063-10C>G rs761313348 0.00001
NM_000289.6(PFKM):c.1374C>G (p.Gly458=) rs765683112 0.00001
NM_000289.6(PFKM):c.1413-2A>G rs1430517061 0.00001
NM_000289.6(PFKM):c.1857T>C (p.Thr619=) rs762229855 0.00001
NM_000289.6(PFKM):c.222G>A (p.Ser74=) rs754074132 0.00001
NM_000289.6(PFKM):c.2292T>C (p.His764=) rs765145687 0.00001
NM_000289.6(PFKM):c.2314C>T (p.Arg772Trp) rs1286672315 0.00001
NM_000289.6(PFKM):c.483G>A (p.Leu161=) rs199856938 0.00001
NM_000289.5(PFKM):c.-11787A>G rs10492080
NM_000289.5(PFKM):c.-65C>A rs886345958
NM_000289.6(PFKM):c.1034G>A (p.Arg345His)
NM_000289.6(PFKM):c.1035C>A (p.Arg345=)
NM_000289.6(PFKM):c.1105G>A (p.Glu369Lys)
NM_000289.6(PFKM):c.1124G>T (p.Gly375Val) rs2135976330
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) rs1064795749
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)
NM_000289.6(PFKM):c.1262C>T (p.Ser421Phe) rs754310566
NM_000289.6(PFKM):c.1286A>G (p.Gln429Arg)
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln) rs374824469
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys) rs1555206566
NM_000289.6(PFKM):c.1413-58C>A rs78496902
NM_000289.6(PFKM):c.1596del (p.Asn532fs) rs2136009658
NM_000289.6(PFKM):c.1654-266_1654-263del rs201738718
NM_000289.6(PFKM):c.1791G>C (p.Glu597Asp)
NM_000289.6(PFKM):c.1867G>A (p.Gly623Ser) rs1316307844
NM_000289.6(PFKM):c.1918A>G (p.Ile640Val)
NM_000289.6(PFKM):c.1993-7_1993-4del rs1057519206
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2078_2081dup (p.Ser694fs) rs1233958453
NM_000289.6(PFKM):c.2137A>G (p.Met713Val) rs386352348
NM_000289.6(PFKM):c.2321G>A (p.Arg774Gln)
NM_000289.6(PFKM):c.2327G>A (p.Gly776Glu)
NM_000289.6(PFKM):c.259G>A (p.Ala87Thr)
NM_000289.6(PFKM):c.428-128C>G rs112524281
NM_000289.6(PFKM):c.564T>C (p.Ile188=) rs1949732821
NM_000289.6(PFKM):c.5C>T (p.Thr2Ile) rs151279280
NM_000289.6(PFKM):c.606A>G (p.Thr202=) rs2135907037
NM_000289.6(PFKM):c.638+161C>T rs2286021
NM_000289.6(PFKM):c.639-10C>G rs2135915213
NM_000289.6(PFKM):c.732T>C (p.Cys244=) rs1406800853
NM_000289.6(PFKM):c.874C>T (p.Arg292Trp)
NM_000289.6(PFKM):c.926A>G (p.Asp309Gly)
NM_000289.6(PFKM):c.936+228C>A rs55752728
NM_000289.6(PFKM):c.936+46C>T rs184861460
NM_000289.6(PFKM):c.974T>C (p.Leu325Ser)
NM_001166686.2(PFKM):c.206-4206A>G
NM_001166686.2(PFKM):c.206-4289C>T
NM_001354741.2(PFKM):c.-81+2015G>A rs1443786102

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