List of variants studied for X-linked disease by Genomic Medicine Lab, University of California San Francisco

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015107.3(PHF8):c.2845C>T (p.Leu949Phe)	rs1342892989	0.00002
NM_000047.3(ARSL):c.898G>A (p.Val300Ile)	rs752354785	0.00001
NM_001039591.3(USP9X):c.260del (p.Pro87fs)	rs1601957478
NM_001039591.3(USP9X):c.3027+5G>T	rs2147124048
NM_001111125.3(IQSEC2):c.2894T>C (p.Leu965Pro)	rs1602268775
NM_001111125.3(IQSEC2):c.808C>T (p.Arg270Trp)	rs1602293814
NM_001356.5(DDX3X):c.1421A>T (p.Asp474Val)	rs2147358546
NM_001356.5(DDX3X):c.976C>T (p.Arg326Cys)	rs1555953548
NM_001415.4(EIF2S3):c.1403C>G (p.Thr468Arg)	rs2147132795
NM_004463.3(FGD1):c.492G>T (p.Lys164Asn)	rs2147435731
NM_004586.3(RPS6KA3):c.432T>G (p.Tyr144Ter)	rs2148701884
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His)	rs727504155
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln)	rs886039764
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val)	rs281874713
NM_139058.3(ARX):c.956C>A (p.Ser319Ter)	rs2048708701

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.