ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358
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.1341+1G>T rs755419857
NM_000289.6(PFKM):c.1413-64A>G
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer)
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala) rs121918194
NM_000289.6(PFKM):c.165T>A (p.Tyr55Ter)
NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer) rs1592818641
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys) rs121918196
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter)
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)
NM_000289.6(PFKM):c.428-2A>C rs895690691
PFKM, IVS5DS, G-A, +1

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