ClinVar Miner

List of variants in gene PFKM studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 244
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HGVS dbSNP
NM_000289.6(PFKM):c.*134G>A rs886049456
NM_000289.6(PFKM):c.*163G>A
NM_000289.6(PFKM):c.*282C>T
NM_000289.6(PFKM):c.*3C>T rs367783282
NM_000289.6(PFKM):c.*411G>A
NM_000289.6(PFKM):c.*452T>C
NM_000289.6(PFKM):c.*489T>A rs886049457
NM_000289.6(PFKM):c.*503G>T rs747797192
NM_000289.6(PFKM):c.*532A>G
NM_000289.6(PFKM):c.*564G>A
NM_000289.6(PFKM):c.*622G>A rs568063197
NM_000289.6(PFKM):c.*668G>T
NM_000289.6(PFKM):c.*98G>A rs886049455
NM_000289.6(PFKM):c.-17G>C
NM_000289.6(PFKM):c.1004T>C (p.Val335Ala)
NM_000289.6(PFKM):c.1005A>G (p.Val335=) rs1454843075
NM_000289.6(PFKM):c.1014C>G (p.Leu338=)
NM_000289.6(PFKM):c.1020T>C (p.Gly340=)
NM_000289.6(PFKM):c.1032G>A (p.Val344=)
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys) rs762357629
NM_000289.6(PFKM):c.103A>C (p.Arg35=) rs1057522048
NM_000289.6(PFKM):c.1041C>T (p.Pro347=)
NM_000289.6(PFKM):c.1044C>G (p.Leu348=)
NM_000289.6(PFKM):c.1063-5C>T rs758178966
NM_000289.6(PFKM):c.1063-6C>A
NM_000289.6(PFKM):c.1063-6C>G rs371033104
NM_000289.6(PFKM):c.1063-6C>T
NM_000289.6(PFKM):c.1063-7C>T rs776228408
NM_000289.6(PFKM):c.1077C>G (p.Thr359=)
NM_000289.6(PFKM):c.1104C>T (p.Asp368=)
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly) rs531875148
NM_000289.6(PFKM):c.1114A>G (p.Lys372Glu)
NM_000289.6(PFKM):c.1115A>G (p.Lys372Arg)
NM_000289.6(PFKM):c.1127+10T>C
NM_000289.6(PFKM):c.1127+1G>T
NM_000289.6(PFKM):c.1127+7A>G
NM_000289.6(PFKM):c.1127+9A>C
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358
NM_000289.6(PFKM):c.1128-10C>A
NM_000289.6(PFKM):c.1128-4A>G
NM_000289.6(PFKM):c.1155C>T (p.Tyr385=)
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) rs1064795749
NM_000289.6(PFKM):c.1161T>C (p.Leu387=)
NM_000289.6(PFKM):c.1164A>G (p.Leu388=)
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) rs121918193
NM_000289.6(PFKM):c.116G>T (p.Arg39Leu) rs121918193
NM_000289.6(PFKM):c.1182G>A (p.Pro394=) rs372189049
NM_000289.6(PFKM):c.1191+1G>A rs746348793
NM_000289.6(PFKM):c.1192-3_1192-2del
NM_000289.6(PFKM):c.1192-4A>G
NM_000289.6(PFKM):c.1192-5T>C rs778432092
NM_000289.6(PFKM):c.1192-7T>C
NM_000289.6(PFKM):c.1200G>A (p.Ser400=)
NM_000289.6(PFKM):c.1212T>C (p.Ala404=)
NM_000289.6(PFKM):c.1221C>T (p.Asn407=)
NM_000289.6(PFKM):c.1224G>C (p.Val408=)
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) rs886049454
NM_000289.6(PFKM):c.1254T>G (p.Ala418=) rs1592789513
NM_000289.6(PFKM):c.1260C>T (p.Arg420=) rs756454146
NM_000289.6(PFKM):c.1275T>C (p.Ile425=) rs1592789738
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln)
NM_000289.6(PFKM):c.129C>T (p.Phe43=)
NM_000289.6(PFKM):c.1302C>T (p.Leu434=)
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile) rs774425888
NM_000289.6(PFKM):c.1308C>G (p.Val436=) rs779395140
NM_000289.6(PFKM):c.1311T>C (p.His437=)
NM_000289.6(PFKM):c.1320C>T (p.Phe440=) rs540444775
NM_000289.6(PFKM):c.132C>T (p.Thr44=)
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys) rs1555206566
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928
NM_000289.6(PFKM):c.1341+1G>T rs755419857
NM_000289.6(PFKM):c.1341+8del
NM_000289.6(PFKM):c.1342-14G>T rs56117548
NM_000289.6(PFKM):c.1342-7C>T rs1592793920
NM_000289.6(PFKM):c.1342-9del
NM_000289.6(PFKM):c.1347G>A (p.Glu449=)
NM_000289.6(PFKM):c.1374C>G (p.Gly458=)
NM_000289.6(PFKM):c.138C>T (p.Ala46=)
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys) rs774921979
NM_000289.6(PFKM):c.1401T>C (p.Leu467=) rs554664722
NM_000289.6(PFKM):c.140G>A (p.Arg47His)
NM_000289.6(PFKM):c.1413-2A>G rs1430517061
NM_000289.6(PFKM):c.1413-58C>A
NM_000289.6(PFKM):c.1413-64A>G
NM_000289.6(PFKM):c.1416T>C (p.Thr472=)
NM_000289.6(PFKM):c.1417C>T (p.Leu473=)
NM_000289.6(PFKM):c.1443C>T (p.Ile481=)
NM_000289.6(PFKM):c.1464T>C (p.Phe488=) rs374814413
NM_000289.6(PFKM):c.1467C>T (p.Asn489=)
NM_000289.6(PFKM):c.1476C>T (p.Gly492=) rs200847712
NM_000289.6(PFKM):c.1500+1G>A
NM_000289.6(PFKM):c.1500+32C>T rs41291967
NM_000289.6(PFKM):c.1500+9C>T
NM_000289.6(PFKM):c.1501-12TCT[2]
NM_000289.6(PFKM):c.1501-2del
NM_000289.6(PFKM):c.1503T>A (p.Ala501=)
NM_000289.6(PFKM):c.1503T>G (p.Ala501=)
NM_000289.6(PFKM):c.1521A>G (p.Glu507=) rs1592800238
NM_000289.6(PFKM):c.1587C>T (p.Val529=)
NM_000289.6(PFKM):c.159+10G>A
NM_000289.6(PFKM):c.159+1G>T
NM_000289.6(PFKM):c.1599C>A (p.Val533=)
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer)
NM_000289.6(PFKM):c.1611C>T (p.Asp537=)
NM_000289.6(PFKM):c.1617C>T (p.Ser539=)
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala) rs121918194
NM_000289.6(PFKM):c.1647C>A (p.Ile549=)
NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg)
NM_000289.6(PFKM):c.1653+8C>T rs369425921
NM_000289.6(PFKM):c.1659T>C (p.Cys553=)
NM_000289.6(PFKM):c.165T>A (p.Tyr55Ter)
NM_000289.6(PFKM):c.1701G>A (p.Val567=)
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe) rs370424471
NM_000289.6(PFKM):c.1770C>T (p.Ala590=) rs751097669
NM_000289.6(PFKM):c.1779C>G (p.Ala593=) rs1592808888
NM_000289.6(PFKM):c.1818+10C>T rs774040508
NM_000289.6(PFKM):c.1819-9C>A rs755585302
NM_000289.6(PFKM):c.1834C>T (p.Leu612=)
NM_000289.6(PFKM):c.1857T>C (p.Thr619=) rs762229855
NM_000289.6(PFKM):c.1881-8C>T rs779486479
NM_000289.6(PFKM):c.1908C>T (p.Thr636=)
NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer) rs1592818641
NM_000289.6(PFKM):c.192C>T (p.His64=)
NM_000289.6(PFKM):c.1932C>T (p.Tyr644=)
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg) rs199528011
NM_000289.6(PFKM):c.1956C>T (p.Phe652=)
NM_000289.6(PFKM):c.1980T>A (p.Gly660=)
NM_000289.6(PFKM):c.1992+5G>A
NM_000289.6(PFKM):c.1993-6C>T
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2034G>A (p.Lys678=)
NM_000289.6(PFKM):c.2040C>T (p.Gly680=) rs369893708
NM_000289.6(PFKM):c.204C>T (p.Ala68=)
NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys) rs121918196
NM_000289.6(PFKM):c.2085C>T (p.Tyr695=) rs745739278
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.2092+7G>A
NM_000289.6(PFKM):c.2092+9G>A
NM_000289.6(PFKM):c.2092+9G>T
NM_000289.6(PFKM):c.2093-14A>G rs11168427
NM_000289.6(PFKM):c.2097G>C (p.Arg699=)
NM_000289.6(PFKM):c.2121G>A (p.Ser707=) rs370046842
NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr)
NM_000289.6(PFKM):c.2127T>C (p.Cys709=)
NM_000289.6(PFKM):c.2176C>T (p.Leu726=)
NM_000289.6(PFKM):c.2190A>G (p.Thr730=)
NM_000289.6(PFKM):c.2199-12A>G rs202008060
NM_000289.6(PFKM):c.2199-4G>A rs1195176028
NM_000289.6(PFKM):c.2199-9C>T
NM_000289.6(PFKM):c.21T>C (p.His7=)
NM_000289.6(PFKM):c.2201A>G (p.His734Arg) rs141570669
NM_000289.6(PFKM):c.2211C>G (p.Pro737=)
NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg)
NM_000289.6(PFKM):c.222G>A (p.Ser74=)
NM_000289.6(PFKM):c.2233C>T (p.Leu745=)
NM_000289.6(PFKM):c.2241C>T (p.Pro747=)
NM_000289.6(PFKM):c.2253C>A (p.Ile751=)
NM_000289.6(PFKM):c.2265C>T (p.Tyr755=) rs374418157
NM_000289.6(PFKM):c.2274C>G (p.Asp758Glu)
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser) rs1592832922
NM_000289.6(PFKM):c.2292T>C (p.His764=)
NM_000289.6(PFKM):c.2322G>A (p.Arg774=)
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716
NM_000289.6(PFKM):c.2337C>T (p.Ala779=)
NM_000289.6(PFKM):c.237+10A>G
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter)
NM_000289.6(PFKM):c.297C>T (p.Leu99=) rs1181881387
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)
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.309C>T (p.Tyr103=)
NM_000289.6(PFKM):c.318G>A (p.Val106=) rs775680284
NM_000289.6(PFKM):c.327G>A (p.Gly109=)
NM_000289.6(PFKM):c.333C>T (p.Thr111=)
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser) rs1592727517
NM_000289.6(PFKM):c.360C>T (p.Gly120=) rs886049453
NM_000289.6(PFKM):c.366C>T (p.Leu122=)
NM_000289.6(PFKM):c.369T>G (p.Thr123=) rs1592727757
NM_000289.6(PFKM):c.36G>A (p.Leu12=)
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) rs140473672
NM_000289.6(PFKM):c.428-2A>C rs895690691
NM_000289.6(PFKM):c.428-5G>A
NM_000289.6(PFKM):c.428-6T>C
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737
NM_000289.6(PFKM):c.459C>T (p.Ser153=) rs145519821
NM_000289.6(PFKM):c.468G>C (p.Leu156=)
NM_000289.6(PFKM):c.471C>T (p.Asn157=)
NM_000289.6(PFKM):c.477G>T (p.Val159=)
NM_000289.6(PFKM):c.495T>A (p.Ile165=)
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala)
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392
NM_000289.6(PFKM):c.543C>T (p.Ala181=)
NM_000289.6(PFKM):c.552G>T (p.Arg184=)
NM_000289.6(PFKM):c.564T>C (p.Ile188=)
NM_000289.6(PFKM):c.570T>C (p.Asp190=) rs761133325
NM_000289.6(PFKM):c.593+10C>G
NM_000289.6(PFKM):c.594-4G>A
NM_000289.6(PFKM):c.597C>T (p.His199=)
NM_000289.6(PFKM):c.59T>C (p.Val20Ala) rs755992543
NM_000289.6(PFKM):c.627C>G (p.Gly209=)
NM_000289.6(PFKM):c.634T>C (p.Cys212Arg)
NM_000289.6(PFKM):c.638+15C>A rs376150217
NM_000289.6(PFKM):c.66C>G (p.Thr22=)
NM_000289.6(PFKM):c.675C>T (p.Ala225=)
NM_000289.6(PFKM):c.702A>G (p.Pro234=)
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863
NM_000289.6(PFKM):c.711C>T (p.Asp237=)
NM_000289.6(PFKM):c.71G>C (p.Gly24Ala)
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly)
NM_000289.6(PFKM):c.747+10C>T
NM_000289.6(PFKM):c.748-6A>G
NM_000289.6(PFKM):c.774C>T (p.Asn258=)
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881
NM_000289.6(PFKM):c.825C>T (p.Thr275=)
NM_000289.6(PFKM):c.834C>T (p.Asp278=)
NM_000289.6(PFKM):c.844-8C>T
NM_000289.6(PFKM):c.846G>A (p.Leu282=)
NM_000289.6(PFKM):c.859C>T (p.Leu287=)
NM_000289.6(PFKM):c.864A>G (p.Gly288=)
NM_000289.6(PFKM):c.870C>T (p.Asp290=)
NM_000289.6(PFKM):c.888G>A (p.Leu296=) rs753083173
NM_000289.6(PFKM):c.912G>A (p.Thr304=)
NM_000289.6(PFKM):c.921C>T (p.Ala307=)
NM_000289.6(PFKM):c.927C>T (p.Asp309=)
NM_000289.6(PFKM):c.935T>C (p.Leu312Pro)
NM_000289.6(PFKM):c.936+1G>A
NM_000289.6(PFKM):c.937-4G>A
NM_000289.6(PFKM):c.937-6C>T
NM_000289.6(PFKM):c.937-8T>C
NM_000289.6(PFKM):c.965T>C (p.Met322Thr)
NM_000289.6(PFKM):c.978G>A (p.Glu326=) rs550083752
NM_000289.6(PFKM):c.987A>T (p.Pro329=)
NM_001166686.2(PFKM):c.206-3416C>T rs886049452
NM_001166686.2(PFKM):c.206-3464T>G rs12306290
NM_001166686.2(PFKM):c.206-3523C>A rs41291959
NM_001166686.2(PFKM):c.206-3526G>A rs765876195
NM_001166686.2(PFKM):c.206-3528C>T rs886049451
NM_001166686.2(PFKM):c.206-3529G>C rs78512814
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) rs11609399
PFKM, IVS5DS, G-A, +1

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