ClinVar Miner

List of variants in gene LOC112449713, PHKB studied for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000293.3(PHKB):c.270C>T (p.Cys90=) rs139431568 0.00109
NM_000293.3(PHKB):c.305+11G>T rs368293023 0.00041
NM_000293.3(PHKB):c.185T>C (p.Leu62Pro) rs773528597 0.00004
NM_000293.3(PHKB):c.229G>A (p.Gly77Ser) rs749953598 0.00004
NM_000293.3(PHKB):c.258C>T (p.Asp86=) rs147357783 0.00004
NM_000293.3(PHKB):c.271G>A (p.Ala91Thr) rs200339326 0.00004
NM_000293.3(PHKB):c.204C>T (p.Thr68=) rs759882590 0.00003
NM_000293.3(PHKB):c.305+10T>G rs763432163 0.00003
NM_000293.3(PHKB):c.282C>T (p.Ala94=) rs372209609 0.00002
NM_000293.3(PHKB):c.203C>T (p.Thr68Ile) rs1555472064 0.00001
NM_000293.3(PHKB):c.245C>G (p.Ala82Gly) rs754835322 0.00001
NC_000016.10:g.47499755GTCAA[1]
NM_000293.3(PHKB):c.167-4G>T
NM_000293.3(PHKB):c.167-8A>G
NM_000293.3(PHKB):c.167-8A>T
NM_000293.3(PHKB):c.174A>T (p.Ser58=)
NM_000293.3(PHKB):c.178T>G (p.Leu60Val)
NM_000293.3(PHKB):c.180G>A (p.Leu60=)
NM_000293.3(PHKB):c.186G>A (p.Leu62=)
NM_000293.3(PHKB):c.186G>C (p.Leu62=)
NM_000293.3(PHKB):c.198A>C (p.Pro66=)
NM_000293.3(PHKB):c.204C>G (p.Thr68=)
NM_000293.3(PHKB):c.205G>A (p.Gly69Ser)
NM_000293.3(PHKB):c.211T>G (p.Phe71Val)
NM_000293.3(PHKB):c.217A>G (p.Thr73Ala)
NM_000293.3(PHKB):c.219T>C (p.Thr73=)
NM_000293.3(PHKB):c.225A>C (p.Thr75=)
NM_000293.3(PHKB):c.228C>T (p.Cys76=)
NM_000293.3(PHKB):c.234T>C (p.Gly78=)
NM_000293.3(PHKB):c.239A>G (p.Gln80Arg) rs886052020
NM_000293.3(PHKB):c.258C>G (p.Asp86Glu) rs147357783
NM_000293.3(PHKB):c.279G>A (p.Gly93=)
NM_000293.3(PHKB):c.287C>G (p.Ala96Gly) rs776773729
NM_000293.3(PHKB):c.290T>C (p.Leu97Ser)
NM_000293.3(PHKB):c.294T>A (p.Ala98=)
NM_000293.3(PHKB):c.297T>C (p.Leu99=)
NM_000293.3(PHKB):c.300A>G (p.Ala100=)
NM_000293.3(PHKB):c.305+11G>A rs368293023
NM_000293.3(PHKB):c.305+13G>A
NM_000293.3(PHKB):c.305+20C>T
NM_000293.3(PHKB):c.305+21_305+23del
NM_000293.3(PHKB):c.305+2T>C
NM_000293.3(PHKB):c.305+7T>C

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.