List of variants in gene BTD reported as benign by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1353T>C (p.Cys451=)	rs3817641	0.08986
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)	rs35034250	0.01555
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)	rs35976361	0.01187
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=)	rs35145938	0.01185
NM_001370658.1(BTD):c.142A>G (p.Ile48Val)	rs114092911	0.00722
NM_001370658.1(BTD):c.585C>T (p.Leu195=)	rs145388314	0.00669
NM_001370658.1(BTD):c.1002G>A (p.Thr334=)	rs148764524	0.00228
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)	rs151071780	0.00167
NM_001370658.1(BTD):c.201C>T (p.Asn67=)	rs147057169	0.00156
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)	rs142421934	0.00086
NM_001370658.1(BTD):c.-17+13C>G
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)	rs397514333
NM_001370658.1(BTD):c.400-8dup	rs397514361

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.