List of variants in gene ARHGEF9 reported as uncertain significance for Inborn genetic diseases

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001353921.2(ARHGEF9):c.1471G>A (p.Asp491Asn)	rs782577519	0.00015
NM_001353921.2(ARHGEF9):c.305G>A (p.Arg102Gln)	rs782087438	0.00002
NM_001353921.2(ARHGEF9):c.1480G>A (p.Ala494Thr)	rs1556301016	0.00001
NM_001353921.2(ARHGEF9):c.1084A>T (p.Ile362Phe)
NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His)	rs2048831313
NM_001353921.2(ARHGEF9):c.1142T>C (p.Val381Ala)
NM_001353921.2(ARHGEF9):c.1321G>A (p.Gly441Ser)	rs2048820687
NM_001353921.2(ARHGEF9):c.1390+2T>A
NM_001353921.2(ARHGEF9):c.271C>A (p.Leu91Met)
NM_001353921.2(ARHGEF9):c.305G>T (p.Arg102Leu)	rs782087438
NM_001353921.2(ARHGEF9):c.556G>A (p.Glu186Lys)	rs1602446549
NM_001353921.2(ARHGEF9):c.811C>T (p.His271Tyr)	rs2050403490
NM_001353921.2(ARHGEF9):c.87G>A (p.Met29Ile)	rs1569491685
NM_001353921.2(ARHGEF9):c.968G>T (p.Ser323Ile)	rs1569451962
NM_001353921.2(ARHGEF9):c.995T>C (p.Met332Thr)

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.