Variants in gene OFD1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status:		Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status:		Submission 2 (likely benign) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003611.3(OFD1):c.1129+16A>G	rs3815049	0.28069
NM_003611.3(OFD1):c.2387+11C>T	rs140369491	0.02280
NM_003611.3(OFD1):c.714T>C (p.Tyr238=)	rs139848884	0.00637
NM_003611.3(OFD1):c.1923G>A (p.Glu641=)	rs145300245	0.00298
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly)	rs143954823	0.00187
NM_003611.3(OFD1):c.1654+8A>G	rs200767363	0.00184
NM_003611.3(OFD1):c.2376G>A (p.Glu792=)	rs183241931	0.00026
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu)	rs142352920	0.00024
NM_003611.3(OFD1):c.2260+12G>A	rs375507459	0.00023
NM_003611.3(OFD1):c.1730A>G (p.Asn577Ser)	rs200465596	0.00017
NM_003611.3(OFD1):c.2260+8A>G	rs768452237	0.00007
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala)	rs529916753	0.00003
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile)	rs773224811	0.00001
NM_003611.3(OFD1):c.2052C>G (p.Ser684=)	rs61742891
NM_003611.3(OFD1):c.2052C>T (p.Ser684=)	rs61742891

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.