ClinVar Miner

List of variants studied for Waardenburg syndrome type 4A by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001122659.3(EDNRB):c.552T>C (p.Ser184=) rs5348 0.98435
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg) rs144565124 0.00022
NM_001122659.3(EDNRB):c.1212G>A (p.Trp404Ter) rs1566302937

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