List of variants in gene KYAT1-SPOUT1, SPOUT1 studied for Neurodevelopmental disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016390.4(SPOUT1):c.598C>T (p.Arg200Trp)	rs149761259	0.00011
NM_016390.4(SPOUT1):c.940C>T (p.Leu314Phe)	rs756797528	0.00005
NM_016390.4(SPOUT1):c.1054C>T (p.Arg352Cys)	rs374919043	0.00003
NM_016390.4(SPOUT1):c.292G>A (p.Gly98Ser)	rs771869476	0.00003
NM_016390.4(SPOUT1):c.1058C>T (p.Thr353Met)	rs1018452459	0.00001
NM_016390.4(SPOUT1):c.877G>A (p.Gly293Ser)	rs771013793	0.00001
NM_016390.4(SPOUT1):c.1016A>G (p.Tyr339Cys)	rs1830177686
NM_016390.4(SPOUT1):c.730G>A (p.Gly244Ser)	rs2490935545
NM_016390.4(SPOUT1):c.741ATC[1] (p.Ser249del)	rs749238902
NM_016390.4(SPOUT1):c.866C>T (p.Thr289Met)	rs1830188049

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.