ClinVar Miner

List of variants reported as pathogenic for Waardenburg syndrome type 1 by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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NM_181457.3(PAX3):c.242G>C (p.Gly81Ala) rs587776586
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.238C>G (p.His80Asp) rs387906947
NM_181458.4(PAX3):c.251C>T (p.Ser84Phe) rs104893651
NM_181458.4(PAX3):c.268_281del (p.Tyr90fs) rs1559320252
NM_181458.4(PAX3):c.365_369del (p.Lys122fs) rs1559318562
NM_181458.4(PAX3):c.556_557CA[1] (p.His186fs) rs1559316535
NM_181458.4(PAX3):c.556del (p.His186fs) rs1559316542

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