Variants in gene DHCR7 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) 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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001360.3(DHCR7):c.-195G>T	rs141057811	0.00755
NM_001360.3(DHCR7):c.1092G>A (p.Thr364=)	rs35946774	0.00608
NM_001360.3(DHCR7):c.99-10G>A	rs189549129	0.00495
NM_001360.3(DHCR7):c.399C>T (p.Ala133=)	rs147424205	0.00248
NM_001360.3(DHCR7):c.321+10C>T	rs377108406	0.00189
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)	rs72954276	0.00078
NM_001360.3(DHCR7):c.1018G>A (p.Val340Ile)	rs148081697	0.00075
NM_001360.3(DHCR7):c.126C>T (p.Ser42=)	rs150928869	0.00031
NM_001360.3(DHCR7):c.987C>T (p.Pro329=)	rs145901607	0.00024
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile)	rs368473756	0.00001

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.