Variants in gene combination IDUA, SLC26A1 with conflicting interpretations reported as "likely benign and "benign"

Submission 1 (likely benign) minimum review status:		Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status:		Submission 2 (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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.60G>A (p.Ala20=)	rs10902762	0.39819
NM_022042.4(SLC26A1):c.*878G>A	rs147498923	0.00924
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)	rs58037052	0.00910
NM_022042.4(SLC26A1):c.534C>T (p.Ile178=)	rs36095812	0.00611
NM_022042.4(SLC26A1):c.1549G>A (p.Gly517Arg)	rs187110381	0.00386
NM_022042.4(SLC26A1):c.*877C>T	rs200911718	0.00276
NM_000203.5(IDUA):c.246C>G (p.His82Gln)	rs148775298	0.00274
NM_022042.4(SLC26A1):c.181C>T (p.Arg61Cys)	rs547128457	0.00084
NM_000203.5(IDUA):c.234C>T (p.Gly78=)	rs138932617	0.00078
NM_000203.5(IDUA):c.299+988C>T	rs142262555	0.00037
NM_000203.5(IDUA):c.299+3632G>C	rs143974931
NM_022042.4(SLC26A1):c.1284G>A (p.Leu428=)
NM_022042.4(SLC26A1):c.312G>A (p.Thr104=)

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.