ClinVar Miner

List of variants in gene YWHAG studied for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012479.4(YWHAG):c.726C>T (p.Gly242=) rs73703133 0.00731
NM_012479.4(YWHAG):c.148A>C (p.Lys50Gln) rs1554616652
NM_012479.4(YWHAG):c.169C>T (p.Arg57Cys) rs1583981736
NM_012479.4(YWHAG):c.170G>A (p.Arg57His) rs2115589045
NM_012479.4(YWHAG):c.387C>G (p.Asp129Glu) rs1554616630
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_012479.4(YWHAG):c.395G>A (p.Arg132His) rs1583981615
NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser) rs1554616627
NM_012479.4(YWHAG):c.44A>C (p.Glu15Ala) rs1554618767
NM_012479.4(YWHAG):c.451G>T (p.Glu151Ter) rs1389455796
NM_012479.4(YWHAG):c.578C>T (p.Ala193Val)
NM_012479.4(YWHAG):c.628_642del (p.Thr210_Asp214del)
NM_012479.4(YWHAG):c.62A>G (p.Asp21Gly) rs2115667058
NM_012479.4(YWHAG):c.683A>T (p.Asp228Val) rs1803513587
NM_012479.4(YWHAG):c.722A>G (p.Asp241Gly) rs2115587211
NM_012479.4(YWHAG):c.80T>G (p.Met27Arg) rs2115666932
NM_012479.4(YWHAG):c.82A>G (p.Lys28Glu)

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.