List of variants in gene KCNB1 reported as likely pathogenic by GeneDx

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004975.4(KCNB1):c.1057G>A (p.Glu353Lys)	rs1057524688
NM_004975.4(KCNB1):c.1095del (p.Ala366fs)	rs1601071350
NM_004975.4(KCNB1):c.1190G>A (p.Cys397Tyr)	rs1555889084
NM_004975.4(KCNB1):c.1265A>C (p.Glu422Ala)	rs1064795048
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter)	rs1064794764
NM_004975.4(KCNB1):c.1320_1339dup (p.Ser447Ter)	rs1601070913
NM_004975.4(KCNB1):c.643C>T (p.Gln215Ter)	rs1601071971
NM_004975.4(KCNB1):c.907C>T (p.Arg303Ter)	rs1391326211
NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln)	rs1057518621
NM_004975.4(KCNB1):c.938A>G (p.His313Arg)	rs1057521887
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser)	rs1984257387
NM_004975.4(KCNB1):c.990G>C (p.Glu330Asp)	rs1131691489
NM_004975.4(KCNB1):c.995G>T (p.Gly332Val)	rs1555889110

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.