List of variants in gene BTD reported as uncertain significance by Eurofins NTD LLC (GA)

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)	rs34885143	0.01036
NM_001370658.1(BTD):c.201C>T (p.Asn67=)	rs147057169	0.00156
NM_001370658.1(BTD):c.339G>A (p.Pro113=)	rs181743799	0.00133
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)	rs201023772	0.00022
NM_001370658.1(BTD):c.1310T>C (p.Val437Ala)	rs149690919	0.00017
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr)	rs200327983	0.00008
NM_001370658.1(BTD):c.1536G>A (p.Thr512=)	rs774052068	0.00004
NM_001370658.1(BTD):c.908A>G (p.His303Arg)	rs397507176	0.00003
NM_001370658.1(BTD):c.572G>A (p.Arg191His)	rs112195009	0.00001
NM_001370658.1(BTD):c.-17+4C>A	rs780115477
NM_001370658.1(BTD):c.1264G>A (p.Val422Ile)	rs776369447
NM_001370658.1(BTD):c.380A>G (p.His127Arg)	rs886044240
NM_001370658.1(BTD):c.400-8dup	rs397514361
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)	rs397514380
NM_001370658.1(BTD):c.682A>G (p.Ile228Val)	rs398123140
NM_001370658.1(BTD):c.770C>T (p.Pro257Leu)	rs398123141
NM_001370658.1(BTD):c.844C>T (p.His282Tyr)	rs398123142

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.