ClinVar Miner

List of variants in gene WHRN reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015404.4(WHRN):c.559C>T (p.Gln187Ter) rs1230382008 0.00001
NM_015404.4(WHRN):c.1265dup (p.Arg423fs)
NM_015404.4(WHRN):c.1312del (p.Glu438fs) rs2132376874
NM_015404.4(WHRN):c.1519C>T (p.Gln507Ter)
NM_015404.4(WHRN):c.154G>T (p.Glu52Ter)
NM_015404.4(WHRN):c.1563del (p.Tyr522fs)
NM_015404.4(WHRN):c.1573_1574del (p.Thr525fs) rs2132357300
NM_015404.4(WHRN):c.157_166del (p.Ala53fs) rs2133482258
NM_015404.4(WHRN):c.1822C>T (p.Gln608Ter) rs1049970703
NM_015404.4(WHRN):c.1958_1959dup (p.Val654fs) rs2132211574
NM_015404.4(WHRN):c.209del (p.Asn70fs) rs1844239683
NM_015404.4(WHRN):c.2118_2121del (p.Ser707fs)
NM_015404.4(WHRN):c.2187del (p.Asp730fs) rs1835030174
NM_015404.4(WHRN):c.2332C>T (p.Arg778Ter) rs137852839
NM_015404.4(WHRN):c.26C>A (p.Ser9Ter) rs776268964
NM_015404.4(WHRN):c.327C>A (p.Tyr109Ter)
NM_015404.4(WHRN):c.366C>A (p.Tyr122Ter)
NM_015404.4(WHRN):c.501del (p.Ile166_Tyr167insTer) rs2133473949
NM_015404.4(WHRN):c.553_565del (p.Gly185fs) rs1844189531
NM_015404.4(WHRN):c.680dup (p.Tyr228fs) rs1306987034
NM_015404.4(WHRN):c.737del (p.Pro246fs) rs1589229634
NM_015404.4(WHRN):c.73_88del (p.Gly25fs)
NM_015404.4(WHRN):c.74dup (p.Gly26fs) rs1844258324
NM_015404.4(WHRN):c.856dup (p.Asp286fs) rs1064794551
NM_015404.4(WHRN):c.929_948dup (p.Gly317fs) rs2132954843

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.