ClinVar Miner

List of variants in gene WDR19 reported as likely benign for cranioectodermal dysplasia

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_025132.4(WDR19):c.-15G>T rs150860929 0.00252
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_025132.4(WDR19):c.2361C>T (p.Phe787=) rs200133722 0.00165
NM_025132.4(WDR19):c.2363+7C>T rs190180293 0.00066
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn) rs201963605 0.00064
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly) rs201354264 0.00056
NM_025132.4(WDR19):c.13+15G>A rs150633358 0.00041
NM_025132.4(WDR19):c.2239A>G (p.Ile747Val) rs144335584 0.00031
NM_025132.4(WDR19):c.1039C>T (p.Leu347=) rs201958863 0.00027
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769 0.00019
NM_025132.4(WDR19):c.3435C>T (p.Ser1145=) rs200659514 0.00014
NM_025132.4(WDR19):c.1797T>G (p.Ala599=) rs373430338 0.00011
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=) rs181975379 0.00011
NM_025132.4(WDR19):c.6+5A>G rs201198839 0.00011
NM_025132.4(WDR19):c.99-11A>C rs756899296 0.00009
NM_025132.4(WDR19):c.3261+20C>T rs547317070 0.00007
NM_025132.4(WDR19):c.3358+14A>G rs372822923 0.00007
NM_025132.4(WDR19):c.522+13C>T rs374417243 0.00005
NM_025132.4(WDR19):c.962-11G>A rs537505873 0.00005
NM_025132.4(WDR19):c.1962A>G (p.Ala654=) rs770818331 0.00004
NM_025132.4(WDR19):c.2607C>T (p.Tyr869=) rs371645967 0.00004
NM_025132.4(WDR19):c.2742T>C (p.Ala914=) rs753812144 0.00004
NM_025132.4(WDR19):c.3716+13G>A rs759523972 0.00003
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_025132.4(WDR19):c.1357-8C>T rs754713889 0.00002
NM_025132.4(WDR19):c.1752T>C (p.Tyr584=) rs139391186 0.00002
NM_025132.4(WDR19):c.3624C>T (p.Asn1208=) rs747334676 0.00002
NM_025132.4(WDR19):c.1350A>G (p.Leu450=) rs770470368 0.00001
NM_025132.4(WDR19):c.2646-5T>C rs771971475 0.00001
NM_025132.4(WDR19):c.2876+10T>C rs773692164 0.00001
NM_025132.4(WDR19):c.2877-12A>G rs754511582 0.00001
NM_025132.4(WDR19):c.42C>T (p.Gly14=) rs531575276 0.00001
NM_025132.4(WDR19):c.1791T>C (p.Ile597=) rs2109358310
NM_025132.4(WDR19):c.2364-4del rs750106753
NM_025132.4(WDR19):c.2646-16G>T rs750485530
NM_025132.4(WDR19):c.2876+10T>A rs773692164
NM_025132.4(WDR19):c.3951T>C (p.Cys1317=) rs564992065
NM_025132.4(WDR19):c.513G>T (p.Thr171=) rs754543019
NM_025132.4(WDR19):c.6+6_6+8del rs748952637

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.