List of variants in gene HNRNPK reported as pathogenic for Au-Kline syndrome

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: 22

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002140.4(HNRNPK):c.1009delG	rs1554698470
NM_002140.4(HNRNPK):c.1094delG	rs1554698213
NM_031263.4(HNRNPK):c.1008+1G>A	rs1554698658
NM_031263.4(HNRNPK):c.1040_1041del (p.Ser347fs)
NM_031263.4(HNRNPK):c.1048_1051del (p.Asp350fs)
NM_031263.4(HNRNPK):c.1192-14_1192-2del	rs1956767508
NM_031263.4(HNRNPK):c.1192-7_1192-3del
NM_031263.4(HNRNPK):c.1240C>T (p.Arg414Cys)	rs1348162749
NM_031263.4(HNRNPK):c.1361+1G>A
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys)	rs1554700678
NM_031263.4(HNRNPK):c.257+5G>A
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His)	rs863223403
NM_031263.4(HNRNPK):c.402+1G>A
NM_031263.4(HNRNPK):c.440T>A (p.Leu147Ter)
NM_031263.4(HNRNPK):c.464T>C (p.Leu155Pro)	rs1564063967
NM_031263.4(HNRNPK):c.573_574del (p.Arg191fs)	rs1956917064
NM_031263.4(HNRNPK):c.673T>C (p.Tyr225His)	rs1588417800
NM_031263.4(HNRNPK):c.779dup (p.Phe261_Asp262insTer)	rs886041807
NM_031263.4(HNRNPK):c.859C>T (p.Arg287Ter)	rs1554698878
NM_031263.4(HNRNPK):c.931_932insTT (p.Pro311fs)	rs879255263
NM_031263.4(HNRNPK):c.953+1dup	rs863223402
NM_031263.4(HNRNPK):c.998dup (p.Tyr333Ter)	rs1554698681

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.