ClinVar Miner

List of variants in gene EDNRB reported as uncertain significance for Waardenburg syndrome type 4A

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001122659.3(EDNRB):c.403G>A (p.Gly135Ser)
NM_001122659.3(EDNRB):c.791C>T (p.Ala264Val) rs1212186974
NM_001122659.3(EDNRB):c.973G>A (p.Val325Ile) rs201437745

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