List of variants in gene PFKM reported as likely benign by PreventionGenetics, part of Exact Sciences

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
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.594-41A>G	rs56009798	0.01863
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_000289.6(PFKM):c.747+24T>G	rs149600978	0.00875
NM_000289.6(PFKM):c.160-44A>G	rs116172105	0.00771
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys)	rs145040928	0.00243
NM_000289.6(PFKM):c.1127+43G>C	rs74941556	0.00110
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)	rs140473672	0.00078
NM_000289.6(PFKM):c.459C>T (p.Ser153=)	rs145519821	0.00021
NM_000289.6(PFKM):c.1155C>T (p.Tyr385=)	rs146318448	0.00008
NM_000289.6(PFKM):c.468G>C (p.Leu156=)	rs772301967	0.00004
NM_000289.6(PFKM):c.978G>A (p.Glu326=)	rs550083752	0.00004
NM_000289.6(PFKM):c.1200G>A (p.Ser400=)	rs746775189	0.00002
NM_000289.6(PFKM):c.1308C>G (p.Val436=)	rs779395140	0.00002
NM_000289.6(PFKM):c.1127+45G>A	rs539959647	0.00001
NM_000289.6(PFKM):c.1401T>C (p.Leu467=)	rs554664722	0.00001
NM_000289.6(PFKM):c.-8-4C>T
NM_000289.6(PFKM):c.1032G>A (p.Val344=)	rs1329869497
NM_000289.6(PFKM):c.1191+4C>T
NM_000289.6(PFKM):c.1192-3_1192-2del	rs780969059
NM_000289.6(PFKM):c.1413-56G>A
NM_000289.6(PFKM):c.744C>T (p.Ser248=)
NM_000289.6(PFKM):c.843+5G>A
NM_001354735.1(PFKM):c.180G>T (p.Val60=)
NM_001354735.1(PFKM):c.205+10G>A

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.