ClinVar Miner

List of variants in gene PAX3 studied for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 110
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HGVS dbSNP
NM_181457.3(PAX3):c.242G>C (p.Gly81Ala) rs587776586
NM_181458.4(PAX3):c.*175C>T
NM_181458.4(PAX3):c.*3G>C rs1574618272
NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser) rs151199924
NM_181458.4(PAX3):c.1012A>T (p.Thr338Ser)
NM_181458.4(PAX3):c.1021C>T (p.Gln341Ter) rs1553572740
NM_181458.4(PAX3):c.1029G>A (p.Thr343=) rs747502205
NM_181458.4(PAX3):c.1076_1077del (p.Thr359fs) rs1574646155
NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu) rs200701839
NM_181458.4(PAX3):c.1145C>A (p.Pro382His)
NM_181458.4(PAX3):c.1174-10G>C rs2855268
NM_181458.4(PAX3):c.1195C>G (p.His399Asp) rs1553568937
NM_181458.4(PAX3):c.1204G>A (p.Val402Ile) rs374318137
NM_181458.4(PAX3):c.1229A>T (p.Tyr410Phe) rs886055675
NM_181458.4(PAX3):c.1230C>G (p.Tyr410Ter) rs147111779
NM_181458.4(PAX3):c.123del (p.Gly42fs)
NM_181458.4(PAX3):c.1240C>T (p.Pro414Ser)
NM_181458.4(PAX3):c.1248C>T (p.Thr416=) rs376147620
NM_181458.4(PAX3):c.124G>C (p.Gly42Arg) rs773327091
NM_181458.4(PAX3):c.1253G>T (p.Gly418Val)
NM_181458.4(PAX3):c.126C>A (p.Gly42=) rs369680052
NM_181458.4(PAX3):c.1277C>A (p.Ser426Ter) rs369886550
NM_181458.4(PAX3):c.127G>T (p.Gly43Cys) rs1574772091
NM_181458.4(PAX3):c.129T>C (p.Gly43=) rs12623857
NM_181458.4(PAX3):c.136dup (p.Ile46fs) rs1553594009
NM_181458.4(PAX3):c.1372_1375dup (p.Ser459fs) rs1553568831
NM_181458.4(PAX3):c.139A>C (p.Asn47His) rs104893653
NM_181458.4(PAX3):c.141C>G (p.Asn47Lys) rs104893652
NM_181458.4(PAX3):c.1420+103C>T
NM_181458.4(PAX3):c.1420+104G>A rs142988099
NM_181458.4(PAX3):c.1420+112dup rs368725878
NM_181458.4(PAX3):c.1420+125T>G rs886055674
NM_181458.4(PAX3):c.1420+165G>T
NM_181458.4(PAX3):c.1420+186G>A
NM_181458.4(PAX3):c.1420+201C>T rs573451372
NM_181458.4(PAX3):c.1420+220C>T rs45624434
NM_181458.4(PAX3):c.1420+55C>T rs186207055
NM_181458.4(PAX3):c.142G>C (p.Gly48Arg) rs1419548558
NM_181458.4(PAX3):c.142G>T (p.Gly48Cys) rs1419548558
NM_181458.4(PAX3):c.143del (p.Gly48fs)
NM_181458.4(PAX3):c.144C>T (p.Gly48=)
NM_181458.4(PAX3):c.149C>T (p.Pro50Leu) rs104893650
NM_181458.4(PAX3):c.149_160del (p.Pro50_Asn53del) rs1553593965
NM_181458.4(PAX3):c.156C>G (p.Pro52=) rs28945092
NM_181458.4(PAX3):c.166C>T (p.Arg56Cys)
NM_181458.4(PAX3):c.167G>T (p.Arg56Leu) rs267606931
NM_181458.4(PAX3):c.185_202del (p.Met62_Ile67del) rs1559320436
NM_181458.4(PAX3):c.210C>A (p.Cys70Ter) rs1356246522
NM_181458.4(PAX3):c.218C>T (p.Ser73Leu) rs1553593928
NM_181458.4(PAX3):c.227T>G (p.Leu76Arg) rs1553593925
NM_181458.4(PAX3):c.232G>T (p.Val78Leu) rs1553593917
NM_181458.4(PAX3):c.238C>G (p.His80Asp) rs387906947
NM_181458.4(PAX3):c.239A>G (p.His80Arg) rs1574771535
NM_181458.4(PAX3):c.241G>C (p.Gly81Arg)
NM_181458.4(PAX3):c.241G>T (p.Gly81Cys) rs483353059
NM_181458.4(PAX3):c.246C>A (p.Cys82Ter) rs777297575
NM_181458.4(PAX3):c.246C>G (p.Cys82Trp) rs777297575
NM_181458.4(PAX3):c.251C>T (p.Ser84Phe) rs104893651
NM_181458.4(PAX3):c.256A>T (p.Ile86Phe) rs1559320299
NM_181458.4(PAX3):c.264del (p.Leu87_Cys88insTer)
NM_181458.4(PAX3):c.268T>C (p.Tyr90His) rs104893654
NM_181458.4(PAX3):c.268_281del (p.Tyr90fs) rs1559320252
NM_181458.4(PAX3):c.269A>G (p.Tyr90Cys) rs1553593874
NM_181458.4(PAX3):c.270C>G (p.Tyr90Ter)
NM_181458.4(PAX3):c.293C>T (p.Pro98Leu) rs1553593856
NM_181458.4(PAX3):c.321+10C>A rs140960868
NM_181458.4(PAX3):c.342G>A (p.Val114=)
NM_181458.4(PAX3):c.365_369del (p.Lys122fs) rs1559318562
NM_181458.4(PAX3):c.366_367del (p.Asn125fs)
NM_181458.4(PAX3):c.386_398del (p.Phe129fs) rs1559318494
NM_181458.4(PAX3):c.415A>T (p.Lys139Ter) rs876661317
NM_181458.4(PAX3):c.452-9C>A rs1379006499
NM_181458.4(PAX3):c.464del (p.Ser155fs) rs1553592766
NM_181458.4(PAX3):c.467G>C (p.Arg156Pro)
NM_181458.4(PAX3):c.482_484delinsTA (p.Lys161fs) rs1553592757
NM_181458.4(PAX3):c.524dup (p.Glu176fs) rs1553592713
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn) rs116473352
NM_181458.4(PAX3):c.530_531insCT (p.Ala177_Glu178insTer) rs1553592703
NM_181458.4(PAX3):c.540C>G (p.Ser180Arg) rs200679164
NM_181458.4(PAX3):c.556del (p.His186fs) rs1559316542
NM_181458.4(PAX3):c.558_559del (p.His186fs) rs1559316535
NM_181458.4(PAX3):c.567C>T (p.Asp189=)
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys) rs148454691
NM_181458.4(PAX3):c.667C>T (p.Arg223Ter) rs772241382
NM_181458.4(PAX3):c.671C>T (p.Thr224Ile)
NM_181458.4(PAX3):c.692T>C (p.Leu231Pro) rs1553575191
NM_181458.4(PAX3):c.706C>A (p.Arg236Ser)
NM_181458.4(PAX3):c.727_739del (p.Tyr243fs) rs1553575179
NM_181458.4(PAX3):c.730C>T (p.Pro244Ser) rs1553575183
NM_181458.4(PAX3):c.748dup (p.Glu250fs) rs1574661904
NM_181458.4(PAX3):c.755T>C (p.Leu252Pro)
NM_181458.4(PAX3):c.784C>T (p.Arg262Ter) rs886041319
NM_181458.4(PAX3):c.790C>T (p.Gln264Ter) rs1553575159
NM_181458.4(PAX3):c.791A>C (p.Gln264Pro) rs1553575157
NM_181458.4(PAX3):c.807C>T (p.Asn269=) rs45501393
NM_181458.4(PAX3):c.808C>T (p.Arg270Cys) rs1228590199
NM_181458.4(PAX3):c.811C>T (p.Arg271Cys) rs1380858784
NM_181458.4(PAX3):c.812G>A (p.Arg271His) rs774528745
NM_181458.4(PAX3):c.818G>A (p.Arg273Lys) rs1020175890
NM_181458.4(PAX3):c.829C>T (p.Gln277Ter)
NM_181458.4(PAX3):c.86-2A>G rs1553594069
NM_181458.4(PAX3):c.873C>T (p.Pro291=) rs141545923
NM_181458.4(PAX3):c.879G>T (p.Gly293=) rs45522331
NM_181458.4(PAX3):c.879dup (p.Phe294fs) rs1553572967
NM_181458.4(PAX3):c.921del (p.Ser308fs) rs1553572946
NM_181458.4(PAX3):c.925dup (p.Glu309fs)
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys) rs2234675
NM_181458.4(PAX3):c.958+9G>A rs185119406
NM_181458.4(PAX3):c.981C>T (p.Thr327=)
PAX3, 1-BP DEL

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