ClinVar Miner

List of variants studied for Waardenburg syndrome type 1

Included ClinVar conditions (2):
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Total variants: 53
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HGVS dbSNP
NM_000248.3(MITF):c.710+1G>A rs1559749017
NM_181457.3(PAX3):c.242G>C (p.Gly81Ala) rs587776586
NM_181457.4(PAX3):c.1021C>T (p.Gln341Ter) rs1553572740
NM_181457.4(PAX3):c.1195C>G (p.His399Asp) rs1553568937
NM_181457.4(PAX3):c.1230C>G (p.Tyr410Ter)
NM_181457.4(PAX3):c.124G>C (p.Gly42Arg) rs773327091
NM_181457.4(PAX3):c.1277C>A (p.Ser426Ter) rs369886550
NM_181457.4(PAX3):c.136dup (p.Ile46fs) rs1553594009
NM_181457.4(PAX3):c.1372_1375dup (p.Ser459fs) rs1553568831
NM_181457.4(PAX3):c.142G>C (p.Gly48Arg) rs1419548558
NM_181457.4(PAX3):c.142G>T (p.Gly48Cys) rs1419548558
NM_181457.4(PAX3):c.149C>T (p.Pro50Leu) rs104893650
NM_181457.4(PAX3):c.149_160del (p.Pro50_Asn53del) rs1553593965
NM_181457.4(PAX3):c.167G>T (p.Arg56Leu) rs267606931
NM_181457.4(PAX3):c.185_202del (p.Met62_Ile67del) rs1559320436
NM_181457.4(PAX3):c.210C>A (p.Cys70Ter) rs1356246522
NM_181457.4(PAX3):c.218C>T (p.Ser73Leu) rs1553593928
NM_181457.4(PAX3):c.227T>G (p.Leu76Arg) rs1553593925
NM_181457.4(PAX3):c.232G>T (p.Val78Leu) rs1553593917
NM_181457.4(PAX3):c.238C>G (p.His80Asp) rs387906947
NM_181457.4(PAX3):c.241G>T (p.Gly81Cys) rs483353059
NM_181457.4(PAX3):c.246C>A (p.Cys82Ter) rs777297575
NM_181457.4(PAX3):c.251C>T (p.Ser84Phe) rs104893651
NM_181457.4(PAX3):c.256A>T (p.Ile86Phe) rs1559320299
NM_181457.4(PAX3):c.268_281del (p.Tyr90fs) rs1559320252
NM_181457.4(PAX3):c.269A>G (p.Tyr90Cys) rs1553593874
NM_181457.4(PAX3):c.293C>T (p.Pro98Leu) rs1553593856
NM_181457.4(PAX3):c.365_369del (p.Lys122fs) rs1559318562
NM_181457.4(PAX3):c.415A>T (p.Lys139Ter) rs876661317
NM_181457.4(PAX3):c.452-9C>A rs1379006499
NM_181457.4(PAX3):c.464del (p.Ser155fs) rs1553592766
NM_181457.4(PAX3):c.482_484delinsTA (p.Lys161fs) rs1553592757
NM_181457.4(PAX3):c.524dup (p.Glu176fs) rs1553592713
NM_181457.4(PAX3):c.525G>C (p.Lys175Asn) rs116473352
NM_181457.4(PAX3):c.530_531insCT (p.Ala177_Glu178insTer) rs1553592703
NM_181457.4(PAX3):c.540C>G (p.Ser180Arg) rs200679164
NM_181457.4(PAX3):c.556_557CA[1] (p.His186fs) rs1559316535
NM_181457.4(PAX3):c.556del (p.His186fs) rs1559316542
NM_181457.4(PAX3):c.580G>A (p.Glu194Lys) rs148454691
NM_181457.4(PAX3):c.692T>C (p.Leu231Pro) rs1553575191
NM_181457.4(PAX3):c.727_739del (p.Tyr243fs) rs1553575179
NM_181457.4(PAX3):c.730C>T (p.Pro244Ser) rs1553575183
NM_181457.4(PAX3):c.784C>T (p.Arg262Ter) rs886041319
NM_181457.4(PAX3):c.790C>T (p.Gln264Ter) rs1553575159
NM_181457.4(PAX3):c.791A>C (p.Gln264Pro) rs1553575157
NM_181457.4(PAX3):c.808C>T (p.Arg270Cys) rs1228590199
NM_181457.4(PAX3):c.811C>T (p.Arg271Cys) rs1380858784
NM_181457.4(PAX3):c.812G>A (p.Arg271His) rs774528745
NM_181457.4(PAX3):c.818G>A (p.Arg273Lys) rs1020175890
NM_181457.4(PAX3):c.86-2A>G rs1553594069
NM_181457.4(PAX3):c.921del (p.Ser308fs) rs1553572946
NM_181457.4(PAX3):c.944C>A (p.Thr315Lys) rs2234675
PAX3, 1-BP DEL

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