ClinVar Miner

List of variants in gene PAX3 reported as likely pathogenic for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (870):
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Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
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.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.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.173_175del (p.Lys58del)
NM_181458.4(PAX3):c.178G>T (p.Val60Leu)
NM_181458.4(PAX3):c.196G>C (p.Gly66Arg)
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.214A>G (p.Ile72Val)
NM_181458.4(PAX3):c.214A>T (p.Ile72Phe)
NM_181458.4(PAX3):c.232G>T (p.Val78Leu) rs1553593917
NM_181458.4(PAX3):c.239A>G (p.His80Arg) rs1574771535
NM_181458.4(PAX3):c.240C>A (p.His80Gln)
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.256A>T (p.Ile86Phe) rs1559320299
NM_181458.4(PAX3):c.265A>G (p.Arg89Gly)
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.357G>T (p.Glu119Asp)
NM_181458.4(PAX3):c.433C>T (p.Arg145Ter)
NM_181458.4(PAX3):c.452-1G>A
NM_181458.4(PAX3):c.452-2A>C
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.524dup (p.Glu176fs) rs1553592713
NM_181458.4(PAX3):c.526del (p.Glu176fs)
NM_181458.4(PAX3):c.530_531insCT (p.Ala177_Glu178insTer) rs1553592703
NM_181458.4(PAX3):c.602C>A (p.Ser201Ter)
NM_181458.4(PAX3):c.643_646del (p.Leu215fs)
NM_181458.4(PAX3):c.688C>A (p.Gln230Lys)
NM_181458.4(PAX3):c.692T>C (p.Leu231Pro) rs1553575191
NM_181458.4(PAX3):c.727_739del (p.Tyr243fs) rs1553575179
NM_181458.4(PAX3):c.755T>C (p.Leu252Pro) rs1692619812
NM_181458.4(PAX3):c.768del (p.Lys257fs) rs2106095025
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.792G>C (p.Gln264His)
NM_181458.4(PAX3):c.804C>A (p.Ser268Arg)
NM_181458.4(PAX3):c.809G>A (p.Arg270His)
NM_181458.4(PAX3):c.809G>C (p.Arg270Pro) rs2106074603
NM_181458.4(PAX3):c.86-1G>C
NM_181458.4(PAX3):c.86-2A>C
NM_181458.4(PAX3):c.86-2A>G rs1553594069
NM_181458.4(PAX3):c.921del (p.Ser308fs) rs1553572946

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