ClinVar Miner

List of variants studied for Crisponi syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP
CRLF1, 2-BP DEL/1-BP INS, NT708
NM_004750.4(CRLF1):c.[242G>A;1121T>G]
NM_004750.5(CRLF1):c.1102A>T (p.Lys368Ter) rs137853144
NM_004750.5(CRLF1):c.226T>G (p.Trp76Gly) rs137853143
NM_004750.5(CRLF1):c.527+5G>A rs748847434
NM_004750.5(CRLF1):c.676dup (p.Thr226fs)
NM_004750.5(CRLF1):c.713dup (p.Pro239fs) rs768727082
NM_004750.5(CRLF1):c.829C>T (p.Arg277Ter) rs137853145
NM_004750.5(CRLF1):c.843_844TG[1] (p.Val282fs) rs137853928

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.