ClinVar Miner

List of variants studied for Neu-Laxova syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
NM_006623.3(PHGDH):c.-101G>C rs562038
NM_006623.3(PHGDH):c.-140A>G rs561931
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met) rs121907988
NM_006623.4(PHGDH):c.1326G>A (p.Thr442=) rs543703
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) rs587731325
NM_006623.4(PHGDH):c.262G>A (p.Ala88Thr)
NM_006623.4(PHGDH):c.357-1G>A rs766427173
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) rs587777770
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln) rs587777483
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp) rs139063843
NM_006623.4(PHGDH):c.706C>T (p.Arg236Cys) rs147066269
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_006623.4(PHGDH):c.793G>A (p.Glu265Lys) rs587777774
NM_006623.4(PHGDH):c.802C>T (p.Arg268Trp)
NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro) rs587777775
NM_006623.4(PHGDH):c.910G>A (p.Val304Met)
NM_006623.4(PHGDH):c.916A>G (p.Met306Val) rs587648058

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.