ClinVar Miner

List of variants in gene PAX3 studied for Waardenburg syndrome type 1

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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_181458.4(PAX3):c.129T>C (p.Gly43=) rs12623857 0.84982
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys) rs2234675 0.02573
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn) rs116473352 0.00287
NM_181458.4(PAX3):c.706C>A (p.Arg236Ser) rs769650688 0.00001
NM_181458.4(PAX3):c.808C>T (p.Arg270Cys) rs1228590199 0.00001
NM_181457.3(PAX3):c.242G>C (p.Gly81Ala) rs587776586
NM_181458.4(PAX3):c.*175C>T rs780660984
NM_181458.4(PAX3):c.*3G>C rs1574618272
NM_181458.4(PAX3):c.1195C>G (p.His399Asp) rs1553568937
NM_181458.4(PAX3):c.1230C>G (p.Tyr410Ter) rs147111779
NM_181458.4(PAX3):c.123del (p.Gly42fs) rs2106204266
NM_181458.4(PAX3):c.124G>C (p.Gly42Arg) rs773327091
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.136dup (p.Ile46fs) rs1553594009
NM_181458.4(PAX3):c.1372_1375dup (p.Ser459fs) rs1553568831
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) rs1695346408
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.166C>T (p.Arg56Cys) rs1279989885
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.202C>T (p.Arg68Trp) rs2106203892
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.238C>T (p.His80Tyr)
NM_181458.4(PAX3):c.239A>G (p.His80Arg) rs1574771535
NM_181458.4(PAX3):c.241G>C (p.Gly81Arg) rs483353059
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.251C>T (p.Ser84Phe) rs104893651
NM_181458.4(PAX3):c.256A>T (p.Ile86Phe) rs1559320299
NM_181458.4(PAX3):c.264del (p.Leu87_Cys88insTer) rs1695337485
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) rs1695336858
NM_181458.4(PAX3):c.281G>T (p.Gly94Val) rs2106203654
NM_181458.4(PAX3):c.288del (p.Arg97fs)
NM_181458.4(PAX3):c.293C>T (p.Pro98Leu) rs1553593856
NM_181458.4(PAX3):c.365_369del (p.Lys122fs) rs1559318562
NM_181458.4(PAX3):c.366_367del (p.Asn125fs) rs2106200406
NM_181458.4(PAX3):c.372_373del (p.Asn125fs) rs2106200388
NM_181458.4(PAX3):c.415A>T (p.Lys139Ter) rs876661317
NM_181458.4(PAX3):c.433C>T (p.Arg145Ter)
NM_181458.4(PAX3):c.452-9C>A rs1379006499
NM_181458.4(PAX3):c.464del (p.Ser155fs) rs1553592766
NM_181458.4(PAX3):c.482_484delinsTA (p.Lys161fs) rs1553592757
NM_181458.4(PAX3):c.509C>A (p.Ala170Asp)
NM_181458.4(PAX3):c.524dup (p.Glu176fs) rs1553592713
NM_181458.4(PAX3):c.530_531insCT (p.Ala177_Glu178insTer) rs1553592703
NM_181458.4(PAX3):c.556del (p.His186fs) rs1559316542
NM_181458.4(PAX3):c.558_559del (p.His186fs) rs1559316535
NM_181458.4(PAX3):c.586+2T>A rs2106196576
NM_181458.4(PAX3):c.602C>A (p.Ser201Ter)
NM_181458.4(PAX3):c.667C>T (p.Arg223Ter) rs772241382
NM_181458.4(PAX3):c.671C>T (p.Thr224Ile) rs1692623308
NM_181458.4(PAX3):c.688C>A (p.Gln230Lys)
NM_181458.4(PAX3):c.692T>C (p.Leu231Pro) rs1553575191
NM_181458.4(PAX3):c.713T>C (p.Phe238Ser) rs2106095147
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.755T>C (p.Leu252Pro) rs1692619812
NM_181458.4(PAX3):c.768del (p.Lys257fs) rs2106095025
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.809G>A (p.Arg270His)
NM_181458.4(PAX3):c.809G>C (p.Arg270Pro) rs2106074603
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.86-2A>G rs1553594069
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) rs1692180906

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