List of variants in gene combination CLASP1, RNU4ATAC reported as likely pathogenic for Roifman syndrome

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_001395891.1(CLASP1):c.196-567G>A	rs559979281	0.00038
NM_001395891.1(CLASP1):c.196-605C>T	rs188343279	0.00038
NR_023343.3(RNU4ATAC):n.8C>T	rs370715569	0.00025
NR_023343.3(RNU4ATAC):n.18G>A	rs991806266	0.00008
NR_023343.3(RNU4ATAC):n.124G>A	rs544312701	0.00005
NR_023343.3(RNU4ATAC):n.48G>A	rs863225422	0.00005
NC_000002.12:g.121530892C>G	rs559979281
NC_000002.12:g.121530995A>T	rs982261295
NM_001395891.1(CLASP1):c.196-562G>C	rs370715569
NM_001395891.1(CLASP1):c.196-570C>T	rs750325275
NM_001395891.1(CLASP1):c.196-607G>A	rs180755563
NM_001395891.1(CLASP1):c.[196-571C>T];[196-670T>G]
NR_023343.3(RNU4ATAC):n.116A>G	rs982261295
NR_023343.3(RNU4ATAC):n.46G>A	rs1032667950
NR_023343.3(RNU4ATAC):n.50G>A	rs181195449

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.