List of variants reported as uncertain significance by Gene Discovery Core-Manton Center, Boston Children's Hospital

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003737.4(DCHS1):c.2055T>G (p.Phe685Leu)	rs754591624	0.00001
GRCh37/hg19 2q13(chr2:110862474-110983457)x1
NM_001321120.2(TBX4):c.401+3A>T	rs574516876
NM_001326342.2(CELF2):c.1559C>T (p.Pro520Leu)
NM_001379451.1(BCORL1):c.200G>C (p.Ser67Thr)
NM_001385012.1(NBEA):c.8011C>T (p.Pro2671Ser)
NM_004606.5(TAF1):c.3992T>A (p.Ile1331Asn)	rs1602549992
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)

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.