ClinVar Miner

Variants in gene SHH with conflicting interpretations "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:
ClinVar version:
Total variants with conflicting interpretations: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000193.4(SHH):c.301-131C>T rs9333618 0.01029
NM_000193.4(SHH):c.301-163C>T rs4716913 0.00384
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633 0.00262
NM_000193.4(SHH):c.885C>T (p.Ser295=) rs549625672 0.00234
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 0.00191
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654 0.00093
NM_000193.4(SHH):c.1078C>T (p.Leu360=) rs191903572 0.00074

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.