ClinVar Miner

List of variants reported as benign for vitamin D-dependent rickets, type 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000376.3(VDR):c.*1979C>G rs2544043 0.95138
NM_000376.3(VDR):c.2T>C (p.Met1Thr) rs2228570 0.66221
NM_000376.3(VDR):c.*2143A>T rs2853562 0.57087
NM_000376.3(VDR):c.*308C>A rs739837 0.53268
NM_000376.3(VDR):c.1056T>C (p.Ile352=) rs731236 0.33962
NM_000376.3(VDR):c.*461G>T rs3847987 0.12128
NM_000376.3(VDR):c.*2791G>A rs2853563 0.08064
NM_000376.3(VDR):c.146+8C>T rs10783218 0.07673
NM_000376.3(VDR):c.57C>T (p.Asn19=) rs2228572 0.03209
NM_000376.3(VDR):c.*1226T>C rs11574129 0.01576
NM_000376.3(VDR):c.*1503G>A rs115591719 0.01430
NM_000376.3(VDR):c.48T>C (p.Phe16=) rs11832059 0.00770
NM_000376.3(VDR):c.*1906C>A rs9729
NM_000376.3(VDR):c.-84+5022C>A rs11168293
NM_000376.3(VDR):c.-84+5133G>C rs11168292

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.