List of variants reported as likely pathogenic for congenital limb malformation by Illumina Laboratory Services, Illumina

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005105.5(RBM8A):c.*6C>G	rs12079762	0.04454
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)	rs747253294	0.00034
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)	rs761341952	0.00012
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr)	rs140404896	0.00011
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)	rs775076977	0.00004
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter)	rs748000458	0.00001
NM_001198800.3(ASCC1):c.213-8T>G
NM_004247.4(EFTUD2):c.670G>A (p.Gly224Arg)
NM_004380.3(CREBBP):c.1823T>C (p.Leu608Pro)	rs2053254528
NM_004380.3(CREBBP):c.6388C>T (p.Gln2130Ter)	rs2151304304
NM_005445.4(SMC3):c.1419G>C (p.Trp473Cys)	rs1861180589
NM_006265.3(RAD21):c.233_234del (p.Asp77_Cys78insTer)	rs2130479407
NM_018486.3(HDAC8):c.943T>A (p.Trp315Arg)
NM_032634.4(PIGO):c.2854+1G>A	rs1829364614

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.