List of variants reported as pathogenic for Stromme syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_016343.4(CENPF):c.2734G>T (p.Glu912Ter)	rs200976140	0.00002
NM_016343.4(CENPF):c.3703C>T (p.Gln1235Ter)	rs375722599	0.00002
NM_016343.4(CENPF):c.574-2A>C	rs376767238	0.00001
NM_016343.4(CENPF):c.9280C>T (p.Arg3094Ter)	rs869312748	0.00001
NM_016343.4(CENPF):c.1026del (p.Glu342fs)	rs1064795215
NM_016343.4(CENPF):c.1323+1G>A	rs1657782821
NM_016343.4(CENPF):c.171_199del (p.Asn57fs)	rs757575602
NM_016343.4(CENPF):c.1744G>T (p.Glu582Ter)	rs367624766
NM_016343.4(CENPF):c.3488_3503dup (p.Asn1168delinsLysThrTer)
NM_016343.4(CENPF):c.3514_3515del (p.Glu1172fs)
NM_016343.4(CENPF):c.3764C>A (p.Ser1255Ter)
NM_016343.4(CENPF):c.5920dup (p.Thr1974fs)	rs757531591
NM_016343.4(CENPF):c.8033dup (p.Asp2679fs)	rs886041436
NM_016343.4(CENPF):c.8161-1G>C
NM_016343.4(CENPF):c.8692C>T (p.Arg2898Ter)	rs786205697

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.