ClinVar Miner

List of variants in gene PFKM reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 152
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HGVS dbSNP
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.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>G rs371033104
NM_000289.6(PFKM):c.1063-6C>T
NM_000289.6(PFKM):c.1077C>G (p.Thr359=)
NM_000289.6(PFKM):c.1104C>T (p.Asp368=)
NM_000289.6(PFKM):c.1127+10T>C
NM_000289.6(PFKM):c.1127+7A>G
NM_000289.6(PFKM):c.1127+9A>C
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.1161T>C (p.Leu387=)
NM_000289.6(PFKM):c.1164A>G (p.Leu388=)
NM_000289.6(PFKM):c.1182G>A (p.Pro394=) rs372189049
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.129C>T (p.Phe43=)
NM_000289.6(PFKM):c.1302C>T (p.Leu434=)
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.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.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+9C>T
NM_000289.6(PFKM):c.1501-12TCT[2]
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.1599C>A (p.Val533=)
NM_000289.6(PFKM):c.1611C>T (p.Asp537=)
NM_000289.6(PFKM):c.1617C>T (p.Ser539=)
NM_000289.6(PFKM):c.1647C>A (p.Ile549=)
NM_000289.6(PFKM):c.1653+8C>T rs369425921
NM_000289.6(PFKM):c.1659T>C (p.Cys553=)
NM_000289.6(PFKM):c.1701G>A (p.Val567=)
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.192C>T (p.His64=)
NM_000289.6(PFKM):c.1932C>T (p.Tyr644=)
NM_000289.6(PFKM):c.1956C>T (p.Phe652=)
NM_000289.6(PFKM):c.1980T>A (p.Gly660=)
NM_000289.6(PFKM):c.1993-6C>T
NM_000289.6(PFKM):c.2034G>A (p.Lys678=)
NM_000289.6(PFKM):c.204C>T (p.Ala68=)
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.2097G>C (p.Arg699=)
NM_000289.6(PFKM):c.2121G>A (p.Ser707=) rs370046842
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.2211C>G (p.Pro737=)
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.2292T>C (p.His764=)
NM_000289.6(PFKM):c.2322G>A (p.Arg774=)
NM_000289.6(PFKM):c.2337C>T (p.Ala779=)
NM_000289.6(PFKM):c.237+10A>G
NM_000289.6(PFKM):c.297C>T (p.Leu99=) rs1181881387
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.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.428-5G>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.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.627C>G (p.Gly209=)
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.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.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.859C>T (p.Leu287=)
NM_000289.6(PFKM):c.870C>T (p.Asp290=)
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.937-4G>A
NM_000289.6(PFKM):c.937-6C>T
NM_000289.6(PFKM):c.937-8T>C
NM_000289.6(PFKM):c.978G>A (p.Glu326=) rs550083752
NM_000289.6(PFKM):c.987A>T (p.Pro329=)
NM_001166686.2(PFKM):c.206-3523C>A rs41291959

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