List of variants reported as benign for Cranioectodermal dysplasia 2; Short rib polydactyly syndrome 5

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: 16

Download table as spreadsheet

HGVS	dbSNP
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro)	rs76623454
NM_020779.4(WDR35):c.1089G>A (p.Thr363=)	rs79829477
NM_020779.4(WDR35):c.1195-1693A>G	rs144673252
NM_020779.4(WDR35):c.1471-7A>G	rs376388391
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val)	rs148242353
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln)	rs113345685
NM_020779.4(WDR35):c.1755C>T (p.Val585=)	rs146130105
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val)	rs144493712
NM_020779.4(WDR35):c.2262C>T (p.Asp754=)	rs147206032
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe)	rs149667250
NM_020779.4(WDR35):c.2835A>G (p.Glu945=)	rs182928585
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys)	rs56395266
NM_020779.4(WDR35):c.318T>C (p.Ile106=)	rs115963122
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His)	rs148436608
NM_020779.4(WDR35):c.549C>T (p.Tyr183=)	rs34169020
NM_020779.4(WDR35):c.765C>T (p.Tyr255=)	rs117255034

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.