ClinVar Miner

List of variants in gene PAX3 studied for Craniofacial-deafness-hand syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_181458.4(PAX3):c.129T>C (p.Gly43=) rs12623857 0.84982
NM_181458.4(PAX3):c.1174-10G>C rs2855268 0.11848
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys) rs2234675 0.02573
NM_181458.4(PAX3):c.1420+104G>A rs142988099 0.01258
NM_181458.4(PAX3):c.1420+220C>T rs45624434 0.01121
NM_181458.4(PAX3):c.156C>G (p.Pro52=) rs28945092 0.01003
NM_181458.4(PAX3):c.879G>T (p.Gly293=) rs45522331 0.00653
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn) rs116473352 0.00287
NM_181458.4(PAX3):c.873C>T (p.Pro291=) rs141545923 0.00170
NM_181458.4(PAX3):c.321+10C>A rs140960868 0.00029
NM_181458.4(PAX3):c.807C>T (p.Asn269=) rs45501393 0.00027
NM_181458.4(PAX3):c.126C>A (p.Gly42=) rs369680052 0.00026
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.1420+103C>T rs544726519 0.00007
NM_181458.4(PAX3):c.1420+186G>A rs78035924 0.00006
NM_181458.4(PAX3):c.1248C>T (p.Thr416=) rs376147620 0.00004
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.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.141C>G (p.Asn47Lys) rs104893652
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.1420+55C>T rs186207055
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
NM_181458.4(PAX3):c.792+2T>C rs2106094950

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.