ClinVar Miner

List of variants reported as benign for Pitt-Hopkins syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.*5106T>C rs1261084 0.48951
NM_001083962.2(TCF4):c.1941A>G (p.Ser647=) rs8766 0.36950
NM_001083962.2(TCF4):c.*5299A>G rs1261085 0.35514
NM_001083962.2(TCF4):c.*2951A>G rs76640061 0.03016
NM_001083962.2(TCF4):c.*3418dup rs147548324 0.01811
NM_001083962.2(TCF4):c.*451A>G rs115039389 0.01715
NM_001083962.2(TCF4):c.*53C>A rs111947783 0.01565
NM_001083962.2(TCF4):c.*4088T>C rs182171482 0.00621
NM_001083962.2(TCF4):c.-125C>T rs551645393 0.00621
NM_001083962.2(TCF4):c.*909G>A rs143242430 0.00557
NM_001083962.2(TCF4):c.*4437G>C rs61524834 0.00396
NM_001083962.2(TCF4):c.*1903G>A rs117913194 0.00353
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=) rs151150677 0.00274
NM_001083962.2(TCF4):c.*549G>A rs148367822 0.00264
NM_001083962.2(TCF4):c.*2688A>G rs188623567 0.00250
NM_001083962.2(TCF4):c.*1576T>C rs190738599 0.00249
NM_001083962.2(TCF4):c.*2553C>T rs117874302 0.00247
NM_001083962.2(TCF4):c.*5019T>C rs140368699 0.00235
NM_001243230.2(TCF4):c.66G>A (p.Glu22=) rs113395332 0.00228
NM_001083962.2(TCF4):c.*3938G>A rs186817281 0.00193
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) rs143944746 0.00178
NM_001083962.2(TCF4):c.*3269T>A rs192850080 0.00176
NM_001083962.2(TCF4):c.-87G>A rs533414588 0.00175
NM_001083962.2(TCF4):c.73-3T>C rs148658897 0.00173
NM_001083962.2(TCF4):c.*3404G>C rs550785276 0.00153
NM_001083962.2(TCF4):c.*22G>A rs182372608 0.00139
NM_001083962.2(TCF4):c.*3491C>T rs185402957 0.00120
NM_001083962.2(TCF4):c.*832G>T rs181670668 0.00099
NM_001083962.2(TCF4):c.*4549C>G rs562495030 0.00096
NM_001083962.2(TCF4):c.305-14G>A rs187703131 0.00084
NM_001083962.2(TCF4):c.*1889T>G rs180957404 0.00079
NM_001083962.2(TCF4):c.*2660A>G rs140356463 0.00072
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser) rs143244149 0.00064
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499 0.00064
NM_001083962.2(TCF4):c.*2413G>A rs191924864 0.00056
NM_001083962.2(TCF4):c.*5-10C>T rs552239655 0.00052
NM_001083962.2(TCF4):c.936C>T (p.Ser312=) rs368270265 0.00043
NM_001083962.2(TCF4):c.*708T>A rs186018055 0.00038
NM_001083962.2(TCF4):c.*5369C>T rs75090842 0.00032
NM_001083962.2(TCF4):c.966T>C (p.Asp322=) rs142998298 0.00032
NM_001083962.2(TCF4):c.790-9T>C rs373434281 0.00029
NM_001083962.2(TCF4):c.*2001G>T rs201139617 0.00026
NM_001083962.2(TCF4):c.1487-5G>A rs749176054 0.00015
NM_001083962.2(TCF4):c.208-8A>G rs184943897 0.00015
NM_001083962.2(TCF4):c.1551C>T (p.Asp517=) rs140862252 0.00012
NM_001083962.2(TCF4):c.1704G>A (p.Glu568=) rs144068462 0.00007
NM_001083962.2(TCF4):c.945C>T (p.Ala315=) rs200115299 0.00004
NM_001083962.2(TCF4):c.1501C>T (p.Leu501=) rs781382144 0.00003
NM_001083962.2(TCF4):c.1354G>A (p.Gly452Arg) rs138570124 0.00002
NM_001083962.2(TCF4):c.*3058C>T rs543261219 0.00001
NM_001083962.2(TCF4):c.*5503T>C rs555807846 0.00001
NM_001083962.2(TCF4):c.*1339dup rs145712320
NM_001083962.2(TCF4):c.*1761del rs71674214
NM_001083962.2(TCF4):c.*1799G>C rs187063308
NM_001083962.2(TCF4):c.*2010dup rs141970461
NM_001083962.2(TCF4):c.*3982del rs35555522
NM_001083962.2(TCF4):c.*4319_*4320insGA rs373174214
NM_001083962.2(TCF4):c.*4352_*4353del rs11431395
NM_001083962.2(TCF4):c.*5553dup rs71670792
NM_001083962.2(TCF4):c.*785_*786dup rs375140529

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.