ClinVar Miner

List of variants in gene PAX3 reported as pathogenic for Waardenburg syndrome type 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
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.1230C>G (p.Tyr410Ter) rs147111779
NM_181458.4(PAX3):c.123del (p.Gly42fs) rs2106204266
NM_181458.4(PAX3):c.127G>T (p.Gly43Cys) rs1574772091
NM_181458.4(PAX3):c.142G>C (p.Gly48Arg) 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.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.238C>G (p.His80Asp) rs387906947
NM_181458.4(PAX3):c.238C>T (p.His80Tyr)
NM_181458.4(PAX3):c.241G>C (p.Gly81Arg) rs483353059
NM_181458.4(PAX3):c.251C>T (p.Ser84Phe) rs104893651
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.288del (p.Arg97fs)
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.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.667C>T (p.Arg223Ter) rs772241382
NM_181458.4(PAX3):c.671C>T (p.Thr224Ile) rs1692623308
NM_181458.4(PAX3):c.713T>C (p.Phe238Ser) rs2106095147
NM_181458.4(PAX3):c.784C>T (p.Arg262Ter) rs886041319
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.879dup (p.Phe294fs) rs1553572967
NM_181458.4(PAX3):c.925dup (p.Glu309fs) rs1692180906

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