ClinVar Miner

List of variants reported as uncertain significance for craniofacial-deafness-hand syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_181458.4(PAX3):c.540C>G (p.Ser180Arg) rs200679164 0.00020
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys) rs148454691 0.00016
NM_181458.4(PAX3):c.567C>T (p.Asp189=) rs774455796 0.00012
NM_181458.4(PAX3):c.958+9G>A rs185119406 0.00011
NM_181458.4(PAX3):c.1420+103C>T rs544726519 0.00007
NM_181458.4(PAX3):c.1248C>T (p.Thr416=) rs376147620 0.00004
NM_181458.4(PAX3):c.-156C>T rs867534042 0.00003
NM_181458.4(PAX3):c.981C>T (p.Thr327=) rs374429328 0.00002
NM_181458.4(PAX3):c.-248A>C rs886055677 0.00001
NM_181458.4(PAX3):c.-99C>T rs1695446616 0.00001
NM_181458.4(PAX3):c.1029G>A (p.Thr343=) rs747502205 0.00001
NM_181458.4(PAX3):c.1036T>C (p.Ser346Pro) rs778178524 0.00001
NM_181458.4(PAX3):c.1229A>T (p.Tyr410Phe) rs886055675 0.00001
NM_181458.4(PAX3):c.1420+125T>G rs886055674 0.00001
NM_181458.4(PAX3):c.47C>T (p.Pro16Leu) rs886055676 0.00001
NM_181458.4(PAX3):c.683C>T (p.Ala228Val) rs775433032 0.00001
NM_181458.4(PAX3):c.-156C>A rs867534042
NM_181458.4(PAX3):c.1012A>T (p.Thr338Ser) rs1692141813
NM_181458.4(PAX3):c.1204G>A (p.Val402Ile) rs374318137
NM_181458.4(PAX3):c.1240C>T (p.Pro414Ser) rs1691318066
NM_181458.4(PAX3):c.1253G>T (p.Gly418Val) rs1691316648
NM_181458.4(PAX3):c.1420+112dup rs368725878
NM_181458.4(PAX3):c.1420+165G>T rs1395471577
NM_181458.4(PAX3):c.1420+201C>T rs573451372
NM_181458.4(PAX3):c.144C>T (p.Gly48=) rs1252612539
NM_181458.4(PAX3):c.342G>A (p.Val114=) rs1020469778
NM_181458.4(PAX3):c.467G>C (p.Arg156Pro) rs768608755

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.