List of variants in gene KCNB1 reported as likely pathogenic for complex neurodevelopmental disorder

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: 39

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro)	rs1555889108
NM_004975.4(KCNB1):c.1088del (p.Ser363fs)	rs1555889103
NM_004975.4(KCNB1):c.1106G>T (p.Trp369Leu)
NM_004975.4(KCNB1):c.1133T>G (p.Val378Gly)
NM_004975.4(KCNB1):c.1136G>A (p.Gly379Glu)	rs1984249721
NM_004975.4(KCNB1):c.1145A>T (p.Asp382Val)	rs1984248540
NM_004975.4(KCNB1):c.1152C>A (p.Tyr384Ter)
NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr)	rs1060499592
NM_004975.4(KCNB1):c.1181G>A (p.Gly394Glu)
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg)	rs959316981
NM_004975.4(KCNB1):c.1190G>A (p.Cys397Tyr)	rs1555889084
NM_004975.4(KCNB1):c.1190G>T (p.Cys397Phe)	rs1555889084
NM_004975.4(KCNB1):c.1202G>C (p.Gly401Ala)
NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val)	rs1601071099
NM_004975.4(KCNB1):c.1220T>C (p.Leu407Pro)	rs2146813611
NM_004975.4(KCNB1):c.1222C>T (p.Pro408Ser)	rs1601071085
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile)	rs1984243311
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter)	rs1064794764
NM_004975.4(KCNB1):c.1303G>C (p.Ala435Pro)	rs2146813509
NM_004975.4(KCNB1):c.1463G>A (p.Trp488Ter)	rs1984233764
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter)	rs781663444
NM_004975.4(KCNB1):c.1769G>A (p.Ser590Asn)	rs2146812849
NM_004975.4(KCNB1):c.587T>G (p.Ile196Ser)
NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe)	rs1601072041
NM_004975.4(KCNB1):c.623T>G (p.Leu208Arg)
NM_004975.4(KCNB1):c.627C>A (p.Asn209Lys)	rs1984276555
NM_004975.4(KCNB1):c.628A>G (p.Thr210Ala)	rs2146814335
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)	rs1555889162
NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg)	rs1601071839
NM_004975.4(KCNB1):c.814C>T (p.Pro272Ser)	rs1601071747
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)	rs1984264748
NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln)	rs1057518621
NM_004975.4(KCNB1):c.917G>A (p.Arg306His)	rs1984262011
NM_004975.4(KCNB1):c.919A>G (p.Ile307Val)	rs1984261678
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_004975.4(KCNB1):c.935G>C (p.Arg312Pro)
NM_004975.4(KCNB1):c.956C>A (p.Ser319Tyr)	rs1984259606
NM_004975.4(KCNB1):c.956C>T (p.Ser319Phe)	rs1984259606
NM_004975.4(KCNB1):c.973C>T (p.Arg325Trp)	rs1276378675

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.