ClinVar Miner

List of variants reported as pathogenic for Waardenburg syndrome type 1

Included ClinVar conditions (2):
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Total variants: 19
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HGVS dbSNP
NM_181457.3(PAX3):c.242G>C (p.Gly81Ala) rs587776586
NM_181457.4(PAX3):c.1230C>G (p.Tyr410Ter)
NM_181457.4(PAX3):c.142G>C (p.Gly48Arg) rs1419548558
NM_181457.4(PAX3):c.149C>T (p.Pro50Leu) rs104893650
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.218C>T (p.Ser73Leu) rs1553593928
NM_181457.4(PAX3):c.238C>G (p.His80Asp) rs387906947
NM_181457.4(PAX3):c.251C>T (p.Ser84Phe) rs104893651
NM_181457.4(PAX3):c.268_281del (p.Tyr90fs) rs1559320252
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.556_557CA[1] (p.His186fs) rs1559316535
NM_181457.4(PAX3):c.556del (p.His186fs) rs1559316542
NM_181457.4(PAX3):c.784C>T (p.Arg262Ter) rs886041319
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
PAX3, 1-BP DEL

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