List of variants reported as likely benign for Osteogenesis Imperfecta, Recessive 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_001317778.2(SFTPC):c.413C>A (p.Thr138Asn)	rs4715	0.20729
NM_001317778.2(SFTPC):c.*173C>T	rs1126931	0.14333
NM_002615.6(SERPINF1):c.-86C>A	rs9913583	0.06657
NM_003018.3(SFTPC):c.-134G>C	rs28438700	0.06596
NM_001317778.2(SFTPC):c.201+14G>A	rs8192327	0.05091
NM_000942.4(PPIB):c.-171C>T	rs112481305	0.04313
NM_000942.4(PPIB):c.-181G>A	rs113066141	0.04306
NM_001317778.2(SFTPC):c.*36A>G	rs75518353	0.01088
NM_006129.5(BMP1):c.-15C>G	rs373839736	0.00814
NM_022356.4(P3H1):c.1930C>A (p.Gln644Lys)	rs3738497	0.00321
NM_001235.3(SERPINH1):c.-268delA	rs533719133	0.00008
NM_000942.5(PPIB):c.*204dup	rs202080377
NM_021939.4(FKBP10):c.1256+17dup	rs55720039
NM_022356.4(P3H1):c.2055+13C>G	rs76628300

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.