ClinVar Miner

List of variants reported as pathogenic for Waardenburg syndrome type 1 by Center for Human Genetics, Inc

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_181457.4(PAX3):c.142G>C (p.Gly48Arg) rs1419548558
NM_181457.4(PAX3):c.218C>T (p.Ser73Leu) rs1553593928
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

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