ClinVar Miner

List of variants reported as likely pathogenic for Waardenburg syndrome type 4A by Center for Human Genetics, Inc, Center for Human Genetics, Inc

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001122659.3(EDNRB):c.550T>C (p.Ser184Pro) rs1555290659

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